Trial Outcomes & Findings for Stem Cell Gene Therapy for Cystinosis (NCT NCT03897361)

Last Updated: 2026-08-06

Results Overview

The total count of all adverse events (AEs) recorded for each dosed participant reported at any scheduled study visit starting with the first pre-dose safety visit (i.e., the first visit after informed consent and before the first administration of study drug) and continuing through the end of the treatment period. Events were coded using MedDRA and graded according to NCI CTCAE criteria. The outcome is the total count of AEs per participant.

Recruitment status

COMPLETED

Study phase

PHASE1/PHASE2

Target enrollment

7 participants

Primary outcome timeframe

From the first pre-dose safety visit to the end of the treatment period (e.g., 24 months post-dose) or the participant's last safety-assessment visit, whichever occurs later.

Results posted on

2026-08-06

Participant Flow

Subjects were recruited through ClinicalTrials.gov, the Cure Cystinosis International Registry, and cystinosis advocacy organization outreach, including national conferences. Eight subjects were screened; seven met eligibility criteria and were enrolled. Six subjects received CTNS-RD-04 infusion. One subject was a screen failure and one discontinued prior to dosing due to inadequate stem cell collection.

Eight subjects provided informed consent and were screened for eligibility. One subject did not meet inclusion/exclusion criteria and was designated a screen failure and was not enrolled. Seven subjects met eligibility criteria and entered the mobilization and leukapheresis period. One enrolled subject was discontinued from the study immediately following leukapheresis due to inadequate stem cell collection and did not proceed to conditioning or CTNS-RD-04 infusion.

Participant milestones

Participant milestones
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Overall Study STARTED	7
Overall Study COMPLETED	6
Overall Study NOT COMPLETED	1

Reasons for withdrawal

Reasons for withdrawal
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Overall Study Inadequate stem cell collection following leukapheresis.	1

Baseline Characteristics

Stem Cell Gene Therapy for Cystinosis

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=7 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Age, Continuous	28.0 Years STANDARD_DEVIATION 9.2 • n=20 Participants
Sex: Female, Male Female	2 Participants n=20 Participants
Sex: Female, Male Male	5 Participants n=20 Participants
Race (NIH/OMB) American Indian or Alaska Native	0 Participants n=20 Participants
Race (NIH/OMB) Asian	0 Participants n=20 Participants
Race (NIH/OMB) Native Hawaiian or Other Pacific Islander	0 Participants n=20 Participants
Race (NIH/OMB) Black or African American	0 Participants n=20 Participants
Race (NIH/OMB) White	7 Participants n=20 Participants
Race (NIH/OMB) More than one race	0 Participants n=20 Participants
Race (NIH/OMB) Unknown or Not Reported	0 Participants n=20 Participants
Ethnicity (NIH/OMB) Hispanic or Latino	0 Participants n=20 Participants
Ethnicity (NIH/OMB) Not Hispanic or Latino	7 Participants n=20 Participants
Ethnicity (NIH/OMB) Unknown or Not Reported	0 Participants n=20 Participants
Baseline Estimated Glomerular Filtration Rate (eGFR), Continuous	64 mL/min/1.73m2 STANDARD_DEVIATION 22 • n=20 Participants

PRIMARY outcome

Timeframe: From the first pre-dose safety visit to the end of the treatment period (e.g., 24 months post-dose) or the participant's last safety-assessment visit, whichever occurs later.

Population: All dosed participants (n=6) are included. Total AEs per participant ranged from 12 to 49 events; aggregate total was 209 across all 6 participants.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 1	48 Adverse events per participant
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 2	26 Adverse events per participant
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 3	12 Adverse events per participant
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 4	34 Adverse events per participant
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 5	40 Adverse events per participant
Safety and Tolerability: Total Number of Adverse Events (AEs) Per Participant (Pre- and Post-dose to End of Study) Patient 6	49 Adverse events per participant

PRIMARY outcome

Timeframe: From the first pre-dose safety visit to the end of the treatment period (e.g., 24 months post-dose) or the participant's last safety-assessment visit, whichever occurs later.

Population: All dosed participants (n=6) are included. Seven participants entered the mobilization and leukapheresis period; one participant was discontinued prior to conditioning and infusion due to inadequate stem cell collection and did not receive CTNS-RD-04. This participant was not included in safety or efficacy analyses.

The total aggregate count of all graded adverse events (AEs) recorded for all dosed participants reported at any scheduled study visit starting with the first pre-dose safety visit (i.e., the first visit after informed consent and before the first administration of study drug) and continuing through the end of the treatment period. Events were coded using MedDRA v24.0 and graded according to NCI CTCAE version 4.03. The outcome is the total count of AEs per grade (Mild, Moderate, Severe, Life Threatening, Death).

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE) Severity (Pre-dose and Post-dose to End of Study) Grade 1 (Mild)	171 Count (adverse events)
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE) Severity (Pre-dose and Post-dose to End of Study) Grade 2 (Moderate)	34 Count (adverse events)
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE) Severity (Pre-dose and Post-dose to End of Study) Grade 3 (Severe)	4 Count (adverse events)
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE) Severity (Pre-dose and Post-dose to End of Study) Grade 4 (Life Threatening)	0 Count (adverse events)
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by National Cancer Institute Common Terminology Criteria for Adverse Events (CTCAE) Severity (Pre-dose and Post-dose to End of Study) Grade 5 (Fatal)	0 Count (adverse events)

PRIMARY outcome

Timeframe: From the first pre-dose safety visit to the end of the treatment period (e.g., 24 months post-dose) or the participant's last safety-assessment visit, whichever occurs later.

The total aggregate count of all adverse events (AEs) categorized by relationship to the study treatment recorded for all dosed participants reported at any scheduled study visit starting with the first pre-dose safety visit (i.e., the first visit after informed consent and before the first administration of study drug) and continuing through the end of the treatment period. Relationship to the study treatment was determined using the standard categories defined in the protocol: Related (probably or possibly related); Unrelated (not related, unlikely related). Each AE was coded with MedDRA v24.0. The outcome reported is the study-wide total count of AEs in each relationship category.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by Relationship to Study Treatment (Pre-dose and Post-dose to End of Study) Unrelated to study treatment (not related or unlikely related)	209 Adverse Events
Safety and Tolerability: Aggregate Number of Adverse Events (AEs) by Relationship to Study Treatment (Pre-dose and Post-dose to End of Study) Related to study treatment (possibly or probably)	0 Adverse Events

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. Results are summarized as mean (SD) at baseline, approximately 12 months, and approximately 24 months post-infusion. Evaluable data at each timepoint are included in the analysis.

Clinical laboratory values for white blood cell (WBC) count at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: White Blood Cell Count at Baseline, 12-month, and 24-month Post-infusion Baseline	5.75 1000 cells/mm^3 Standard Deviation 1.72
Safety and Tolerability: White Blood Cell Count at Baseline, 12-month, and 24-month Post-infusion 12 Months	4.43 1000 cells/mm^3 Standard Deviation 1.05
Safety and Tolerability: White Blood Cell Count at Baseline, 12-month, and 24-month Post-infusion 24 Months	3.97 1000 cells/mm^3 Standard Deviation 0.84

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Clinical laboratory values for absolute monocyte count at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Absolute Monocyte Count at Baseline, 12-month, and 24-month Post-infusion Baseline	0.42 1000 cells/mm^3 Standard Deviation 0.16
Safety and Tolerability: Absolute Monocyte Count at Baseline, 12-month, and 24-month Post-infusion 12 Months	0.33 1000 cells/mm^3 Standard Deviation 0.15
Safety and Tolerability: Absolute Monocyte Count at Baseline, 12-month, and 24-month Post-infusion 24 Months	0.37 1000 cells/mm^3 Standard Deviation 0.15

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Clinical laboratory values for platelet count at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Platelet Count at Baseline, 12 Month and 24 Month Post-infusion Baseline	178 1000 cells/mm^3 Standard Deviation 74
Safety and Tolerability: Platelet Count at Baseline, 12 Month and 24 Month Post-infusion 12 Months	148 1000 cells/mm^3 Standard Deviation 71
Safety and Tolerability: Platelet Count at Baseline, 12 Month and 24 Month Post-infusion 24 Months	165 1000 cells/mm^3 Standard Deviation 74

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. At the approximately 24-month timepoint, one participant was unable to complete in-person assessments and was excluded from that timepoint (n=5 at 24 months). Evaluable data at each timepoint are included.

Systolic and diastolic blood pressure at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Measurements were taken with subjects positioned supine, seated, or semi-Fowler's position. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Systolic - 24 Months	114.2 mmHg Standard Deviation 12.4
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Systolic - Baseline	120.5 mmHg Standard Deviation 13.7
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Systolic - 12 Months	114.5 mmHg Standard Deviation 10.5
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Diastolic - Baseline	76.2 mmHg Standard Deviation 16.1
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Diastolic - 12 Months	74.8 mmHg Standard Deviation 13.7
Safety and Tolerability: Systolic and Diastolic Blood Pressure at Baseline, 12-month, and 24-month Post-infusion Study Visits Diastolic - 24 Months	66.0 mmHg Standard Deviation 20.9

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Heart rate at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Measurements were taken with subjects positioned supine, seated, or semi-Fowler's position. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Heart Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits Vital signs HR - Baseline	73.2 Beats per minute (BPM) Standard Deviation 11.9
Safety and Tolerability: Heart Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits Vital signs HR - 12 Months	86.7 Beats per minute (BPM) Standard Deviation 11.2
Safety and Tolerability: Heart Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits Vital signs HR - 24 Months	71.2 Beats per minute (BPM) Standard Deviation 3.1

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. At approximately 12 months, evaluable temperature data were available for 5 of 6 participants. At approximately 24 months, evaluable data were available for 5 of 6 participants.

Body temperature at baseline, approximately 12 months, and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Body Temperature at Baseline, 12-month, and 24-month Post-infusion Study Visits Baseline	36.47 Degrees Celsius Standard Deviation 0.21
Safety and Tolerability: Body Temperature at Baseline, 12-month, and 24-month Post-infusion Study Visits 12 Months	36.50 Degrees Celsius Standard Deviation 0.21
Safety and Tolerability: Body Temperature at Baseline, 12-month, and 24-month Post-infusion Study Visits 24 Months	36.50 Degrees Celsius Standard Deviation 0.43

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Respiratory rate at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Measurements were taken with subjects positioned supine, seated, or semi-Fowler's position. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Respiratory Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits 24 Months	16 Breaths per minute Standard Deviation 2.7
Safety and Tolerability: Respiratory Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits Baseline	17 Breaths per minute Standard Deviation 1.7
Safety and Tolerability: Respiratory Rate at Baseline, 12-month, and 24-month Post-infusion Study Visits 12 Months	16 Breaths per minute Standard Deviation 1.5

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. At approximately 24 months, one participant was unable to complete in-person assessments but completed a local ECG; evaluable data are available for all 6 participants at that timepoint.

Electrocardiogram (ECG) ventricular rate at baseline, approximately 12 months and approximately 24 months post-infusion study visits. ECG recordings were obtained using standard 12-lead resting ECGs. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Electrocardiogram (ECG) Ventricular Rates at Baseline, 12-month, and 24-month Post-infusion Study Visits ECG ventricular rate - Baseline	71.3 Beats per minute (BPM) Standard Deviation 14.7
Safety and Tolerability: Electrocardiogram (ECG) Ventricular Rates at Baseline, 12-month, and 24-month Post-infusion Study Visits ECG ventricular rate - 12 Months	74.2 Beats per minute (BPM) Standard Deviation 15.1
Safety and Tolerability: Electrocardiogram (ECG) Ventricular Rates at Baseline, 12-month, and 24-month Post-infusion Study Visits ECG ventricular rate - 24 Months	66.8 Beats per minute (BPM) Standard Deviation 9.8

PRIMARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. One participant had pre-existing cardiac disease and underwent elective cardiac surgery during the follow-up period, contributing to the variability in ECG parameters at the 24-month timepoint.

Electrocardiogram (ECG) intervals including PR interval, QRS interval, QT interval and QTc Bazett at baseline, approximately 12 months and approximately 24 months post-infusion study visits. ECG recordings were obtained using standard 12-lead resting ECGs. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits PR interval - Baseline	145.0 Milliseconds (ms) Standard Deviation 29.9
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits PR interval - 12 Months	149.7 Milliseconds (ms) Standard Deviation 16.2
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits PR interval - 24 Months	148.0 Milliseconds (ms) Standard Deviation 18.4
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QRS interval - Baseline	90.3 Milliseconds (ms) Standard Deviation 12.0
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QRS interval - 12 Months	88.0 Milliseconds (ms) Standard Deviation 14.0
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QRS interval - 24 Months	88.3 Milliseconds (ms) Standard Deviation 15.8
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QT interval - Baseline	390.0 Milliseconds (ms) Standard Deviation 40.9
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QT interval - 12 Months	367.0 Milliseconds (ms) Standard Deviation 29.7
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QT interval - 24 Months	411.3 Milliseconds (ms) Standard Deviation 74.0
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QTc (Bazett) - Baseline	419.7 Milliseconds (ms) Standard Deviation 23.1
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QTc (Bazett) - 12 Months	402.8 Milliseconds (ms) Standard Deviation 18.4
Safety and Tolerability: Electrocardiogram (ECG) Intervals Including PR Interval, QRS Interval, QT Interval and QTc Bazett at Baseline, 12 Month and 24 Month Post-infusion Study Visits QTc (Bazett) - 24 Months	434.5 Milliseconds (ms) Standard Deviation 102.0

PRIMARY outcome

Timeframe: Up to 24 months post-transplant

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included.

The number of dosed participants showing evidence (positive or negative) of polyclonal expansion and insertional mutagenesis as determined by vector integration site (VIS) analysis in whole blood collected at baseline and at approximately 1, 3, 6, 12, 18, and 24 months post-transplant. VIS analysis was performed using LTR-based PCR amplification and Illumina sequencing. Clonal abundance was monitored using the Sonic Abundance method.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Safety: Number of Dosed Participants Showing Evidence (Positive or Negative) of Genotoxicity as Determined by Polyclonal Expansion and Insertional Mutagenesis No evidence of genotoxicity or insertional mutagenesis	6 Participants
Safety: Number of Dosed Participants Showing Evidence (Positive or Negative) of Genotoxicity as Determined by Polyclonal Expansion and Insertional Mutagenesis Evidence of genotoxicity or insertional mutagenesis	0 Participants

SECONDARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. Leukocyte cystine measurement was added to the protocol after enrollment of the first two participants; baseline leukocyte cystine data are therefore available for 4 of 6 participants. Granulocyte cystine baseline data are available for all 6 participants.

Cystine levels in leukocytes and granulocytes from whole blood collected at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Liquid chromatography tandem mass spectrometry (LC-MS/MS) using d4-cystine as an internal standard was used to measure cystine levels. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Leukocyte cystine - Baseline	9.26 nmol half-cystine per mg protein Standard Deviation 5.71
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Leukocyte cystine - 12 Months	2.67 nmol half-cystine per mg protein Standard Deviation 0.79
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Leukocyte cystine - 24 Months	1.75 nmol half-cystine per mg protein Standard Deviation 0.84
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Granulocyte cystine - Baseline	10.22 nmol half-cystine per mg protein Standard Deviation 4.10
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Granulocyte cystine - 12 Months	5.07 nmol half-cystine per mg protein Standard Deviation 2.51
Efficacy: Cystine Levels in Leukocytes and Granulocytes at Baseline, 12 Month and 24 Month Post-infusion Study Visits Granulocyte cystine - 24 Months	4.26 nmol half-cystine per mg protein Standard Deviation 2.56

SECONDARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. This population includes participants with native kidneys and participants with prior kidney transplantation. Evaluable data at each timepoint are included in the analysis.

Estimated glomerular filtration rate (eGFR) calculated from creatinine in whole blood collected at baseline, approximately 12 months and approximately 24 months post-infusion using the 2021 CKD-EPI equation. This population included participants with native kidneys and participants with prior kidney transplantation. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Efficacy: Clinical Laboratory Values of Estimated Glomerular Filtration Rate (eGFR) at Baseline, 12 Month and 24 Month Post-infusion Study Visits eGFR - Baseline	69 mL/min/1.73 m² Standard Deviation 20
Efficacy: Clinical Laboratory Values of Estimated Glomerular Filtration Rate (eGFR) at Baseline, 12 Month and 24 Month Post-infusion Study Visits eGFR - 12 Months	67 mL/min/1.73 m² Standard Deviation 22
Efficacy: Clinical Laboratory Values of Estimated Glomerular Filtration Rate (eGFR) at Baseline, 12 Month and 24 Month Post-infusion Study Visits eGFR - 24 Months	59 mL/min/1.73 m² Standard Deviation 30

SECONDARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. At the approximately 24-month timepoint, evaluable T4 data were available for 4 of 6 participants; two participants did not have a T4 measurement within the reporting window.

Thyroxine (T4) hormone levels from whole blood collected at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint. Normal reference range: 4.5-10.9 µg/dL.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Efficacy: Clinical Laboratory Values of Thyroxine (T4) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits T4 - Baseline	6.95 µg/dL Standard Deviation 0.92
Efficacy: Clinical Laboratory Values of Thyroxine (T4) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits T4 - 12 Months	6.37 µg/dL Standard Deviation 0.72
Efficacy: Clinical Laboratory Values of Thyroxine (T4) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits T4 - 24 Months	6.73 µg/dL Standard Deviation 1.30

SECONDARY outcome

Timeframe: Baseline, approximately 12 months post-infusion, and approximately 24 months post-infusion.

Population: All dosed participants (n=6) are included. One participant was discontinued prior to conditioning and infusion and is not included. Evaluable data at each timepoint are included in the analysis.

Thyroid-stimulating hormone (TSH) levels from whole blood collected at baseline, approximately 12 months and approximately 24 months post-infusion study visits. Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint. Normal reference range: 0.27-4.2 µIU/mL.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Efficacy: Clinical Laboratory Values Thyroid-stimulating Hormone (TSH) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits TSH - Baseline	2.86 µIU/mL Standard Deviation 1.45
Efficacy: Clinical Laboratory Values Thyroid-stimulating Hormone (TSH) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits TSH - 12 Months	3.74 µIU/mL Standard Deviation 2.29
Efficacy: Clinical Laboratory Values Thyroid-stimulating Hormone (TSH) Endocrine Levels at Baseline, 12 Month and 24 Month Post-infusion Study Visits TSH - 24 Months	4.93 µIU/mL Standard Deviation 3.10

SECONDARY outcome

Timeframe: Approximately 12 months post-infusion and approximately 24 months post-infusion.

Vector copy number (VCN) in peripheral blood cells collected at approximately 12 months and approximately 24 months post-transplant to assess engraftment and transduction efficiency of gene-modified hematopoietic stem cells. VCN was measured by droplet digital PCR (ddPCR). Results are summarized as mean (SD) across dosed participants with evaluable data at each timepoint.

Outcome measures

Outcome measures
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 Participants This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Transduction Efficiency: Vector Copy Number (VCN) in Peripheral Blood at 12 Month and 24 Month Post-infusion Study Visits VCN - Baseline	0.00 Vector copy number per diploid genome Standard Deviation 0.00
Transduction Efficiency: Vector Copy Number (VCN) in Peripheral Blood at 12 Month and 24 Month Post-infusion Study Visits VCN - 12 Months	1.46 Vector copy number per diploid genome Standard Deviation 0.90
Transduction Efficiency: Vector Copy Number (VCN) in Peripheral Blood at 12 Month and 24 Month Post-infusion Study Visits VCN - 24 Months	1.30 Vector copy number per diploid genome Standard Deviation 0.94

Adverse Events

Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST)

Serious events: 1 serious events

Other events: 6 other events

Deaths: 0 deaths

Serious adverse events

Serious adverse events
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 participants at risk This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Cardiac disorders Coronary artery stenosis	16.7% 1/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.

Other adverse events

Other adverse events
Measure	Gene Therapy With CTNS-RD-04 (Including Product Manufactured With and Without LentiBOOST) n=6 participants at risk This is a single-arm, open-label study without randomization. Eligible subjects received CTNS-RD-04, an autologous CD34+ hematopoietic stem cell product transduced ex vivo with a lentiviral vector encoding CTNS. During the study, manufacturing incorporated a transduction enhancer (LentiBOOST) in later participants.
Blood and lymphatic system disorders Thrombocytopenia	83.3% 5/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Blood and lymphatic system disorders Leukopenia	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Infections and infestations Febrile neutropenia	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Blood and lymphatic system disorders Epistaxis	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Blood and lymphatic system disorders Anemia	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Endocrine disorders Hypogonadism	100.0% 6/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Endocrine disorders Hypothyroidism	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Oral mucositis	100.0% 6/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Diarrhea	83.3% 5/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Nausea	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Vomiting	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Constipation	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Gastrointestinal disorders Appendicitis	16.7% 1/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
General disorders Fatigue	83.3% 5/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
General disorders Edema	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Infections and infestations COVID-19	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Metabolism and nutrition disorders Decreased appetite	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Metabolism and nutrition disorders Hypokalemia	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Metabolism and nutrition disorders Hypomagnesemia	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Investigations Blood creatinine increased	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Musculoskeletal and connective tissue disorders Bone pain	83.3% 5/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Renal and urinary disorders Chronic kidney disease	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Renal and urinary disorders Acute kidney injury	16.7% 1/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Reproductive system and breast disorders Azoospermia	83.3% 5/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Skin and subcutaneous tissue disorders Alopecia	100.0% 6/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Skin and subcutaneous tissue disorders Rash	100.0% 6/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Vascular disorders Hypotension	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Vascular disorders Deep vein thrombosis	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
General disorders Weight decreased	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Nervous system disorders Headache	66.7% 4/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Respiratory, thoracic and mediastinal disorders Dyspnea	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Metabolism and nutrition disorders Hypophosphataemia	50.0% 3/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.
Nervous system disorders Dysgeusia	33.3% 2/6 • From the first pre-dose safety assessment through approximately 24 months post-infusion, or the participant's last safety-assessment visit, whichever occurs later. Adverse events were assessed at scheduled visits and by clinical monitoring, graded per NCI CTCAE, and evaluated for seriousness and relationship to study procedures and underlying disease. Analysis population: all dosed participants (n=6). Most events were attributable to busulfan conditioning or underlying cystinosis. All events were assessed as not related to CTNS-RD-04.

Additional Information

Stephanie Cherqui, Ph.D

University of California San Diego Health

Phone: 8588221023

Email: [email protected]

Results disclosure agreements

Principal investigator is a sponsor employee
Publication restrictions are in place