Trial Outcomes & Findings for Gene Transfer Clinical Trial to Deliver rAAVrh74.MCK.GALGT2 for Duchenne Muscular Dystrophy (NCT NCT03333590)

NCT ID: NCT03333590

Last Updated: 2025-03-13

Results Overview

Recruitment status

COMPLETED

Study phase

PHASE1/PHASE2

Target enrollment

2 participants

Primary outcome timeframe

2 years

Results posted on

2025-03-13

Participant Flow

Participant milestones

Participant milestones
Measure
Cohort 1 (Minimal Efficacious Dose) rAAVrh74.MCK.GALGT2
N = 3 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2 (Minimal Efficacious Dose) rAAVrh74.MCK.GALGT2
N = 3 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Overall Study
STARTED
1
1
Overall Study
COMPLETED
1
1
Overall Study
NOT COMPLETED
0
0

Reasons for withdrawal

Withdrawal data not reported

Baseline Characteristics

Gene Transfer Clinical Trial to Deliver rAAVrh74.MCK.GALGT2 for Duchenne Muscular Dystrophy

Baseline characteristics by cohort

Baseline characteristics by cohort
Measure
Cohort 1 (Minimal Efficacious Dose) rAAVrh74.MCK.GALGT2
n=1 Participants
N = 3 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2 (Dose Escalation) rAAVrh74.MCK.GALGT2
n=1 Participants
N=3 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Total
n=2 Participants
Total of all reporting groups
Age, Continuous
9 years
n=99 Participants
7 years
n=107 Participants
8 years
n=206 Participants
Sex: Female, Male
Female
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Sex: Female, Male
Male
1 Participants
n=99 Participants
1 Participants
n=107 Participants
2 Participants
n=206 Participants
Ethnicity (NIH/OMB)
Hispanic or Latino
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Ethnicity (NIH/OMB)
Not Hispanic or Latino
1 Participants
n=99 Participants
1 Participants
n=107 Participants
2 Participants
n=206 Participants
Ethnicity (NIH/OMB)
Unknown or Not Reported
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Race (NIH/OMB)
American Indian or Alaska Native
0 Participants
n=99 Participants
1 Participants
n=107 Participants
1 Participants
n=206 Participants
Race (NIH/OMB)
Asian
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Race (NIH/OMB)
Native Hawaiian or Other Pacific Islander
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Race (NIH/OMB)
Black or African American
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Race (NIH/OMB)
White
1 Participants
n=99 Participants
0 Participants
n=107 Participants
1 Participants
n=206 Participants
Race (NIH/OMB)
More than one race
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Race (NIH/OMB)
Unknown or Not Reported
0 Participants
n=99 Participants
0 Participants
n=107 Participants
0 Participants
n=206 Participants
Region of Enrollment
United States
1 participants
n=99 Participants
1 participants
n=107 Participants
2 participants
n=206 Participants

PRIMARY outcome

Timeframe: 2 years

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Participants
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Participants
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Number of Unanticipated Grade III or Higher Treatment-Related Toxicities
0 events
0 events

SECONDARY outcome

Timeframe: Day 90 (Cohort 2) and Day 120 (Cohort 1)

Percentage of fibers expressing GALGT2 in each biopsy sample.

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Biopsies
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Biopsies
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Expression of GALGT2 as Demonstrated by Immunofluorescent Staining With Anti-CT Epitope Antibodies or WFA Lectin in Muscle Biopsy Sections at 120 Days Post Injection (Cohort 1) and 90 Days Post-injection (Cohort 2).
1.95 Percentage of Positive Fibers
1.72 Percentage of Positive Fibers

SECONDARY outcome

Timeframe: Day 90 (Cohort 2) and Day 120 (Cohort 1)

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Biopsies
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Biopsies
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
GALGT2 Protein Expression Quantified by Western Blot and Assessed by Densitometry in Muscle Biopsy Tissue at 120 Days Post-injection (Cohort 1) and 90 Days Post-injection (Cohort 2)
12 ng/mg total protein
14.6 ng/mg total protein

OTHER_PRE_SPECIFIED outcome

Timeframe: Day 90 (Cohort 2) and Day 120 (Cohort 1) and Day 180 for both cohorts

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Participants
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Participants
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Number of Meters Walked During the 6 Minute Walk Test
Day 90 (Cohort 2) /Day 120 (Cohort 1)
320 meters
405 meters
Number of Meters Walked During the 6 Minute Walk Test
Day 180
324 meters
416 meters

OTHER_PRE_SPECIFIED outcome

Timeframe: Days 90 (Cohort 2), 120 (Cohort 1) and both Cohorts at Day 180, Months 12, 18 and 24

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Participants
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Participants
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 180-Right Knee Flexion
6.1 kg
4.24 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 90/Day 120-Right Knee Extension
7.42 kg
7.04 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 90/Day 120-Right Knee Flexion
6.06 kg
8.12 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 90/Day 120- Left Knee Extension
8.78 kg
5.9 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 90/Day 120-Left Knee Flexion
6.12 kg
8.4 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 180-Right Knee Extension
7.13 kg
9.73 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 180-Left Knee Extension
8.66 kg
8.19 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Day 180-Left Knee Flexion
6.69 kg
5.25 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 12-Right Knee Extension
7.49 kg
9.85 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 12-Right Knee Flexion
5.67 kg
5.85 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 12-Left Knee Extension
7.5 kg
8.02 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 12-Left Knee Flexion
5.32 kg
5.12 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 18-Right Knee Extension
4.55 kg
7.67 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 18-Right Knee Flexion
6.11 kg
6.89 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 18-Left Knee Extension
4.96 kg
7.34 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 18-Left Knee Flexion
6.26 kg
6.08 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 24-Right Knee Extension
5.06 kg
9.81 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 24-Right Knee Flexion
4.41 kg
5.04 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 24-Left Knee Extension
6.93 kg
5.21 kg
Strength of the Bilateral Knee Flexors and Extensors During the Maximal Voluntary Isometric Strength Test.
Month 24-Left Knee Flexion
4.17 kg
4.87 kg

OTHER_PRE_SPECIFIED outcome

Timeframe: Days 90 (Cohort 2), 120 (Cohort 1); both Cohorts at Day 180, Months 12, 18 and Cohort 2 at Month 24

Population: There is no data for Cohort 1, Month 24 because single subject was unable to perform the test.

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Participants
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Participants
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Time Taken to Walk 100 Meters During the 100 Meter Walk Test.
Day 90/Day 120
98.2 seconds
56.1 seconds
Time Taken to Walk 100 Meters During the 100 Meter Walk Test.
Day 180
110.9 seconds
44.9 seconds
Time Taken to Walk 100 Meters During the 100 Meter Walk Test.
Month 12
144.5 seconds
44.7 seconds
Time Taken to Walk 100 Meters During the 100 Meter Walk Test.
Month 18
167.8 seconds
65.6 seconds
Time Taken to Walk 100 Meters During the 100 Meter Walk Test.
Month 24
48.4 seconds

OTHER_PRE_SPECIFIED outcome

Timeframe: Days 90 (Cohort 2), 120 (Cohort 1) and both Cohorts at Day 180, Months 12, 18 and 24

The NSAA provides a score between 0 and 34 where higher numbers represent greater muscle function.

Outcome measures

Outcome measures
Measure
Cohort 1 (Minimal Efficacious Dose)
n=1 Participants
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 2
n=1 Participants
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Score of Muscle Function Using the The North Star Ambulatory Assessment (NSAA).
Day 90/Day 120
16 score on a scale
21 score on a scale
Score of Muscle Function Using the The North Star Ambulatory Assessment (NSAA).
Day 180
14 score on a scale
23 score on a scale
Score of Muscle Function Using the The North Star Ambulatory Assessment (NSAA).
Month 12
10 score on a scale
23 score on a scale
Score of Muscle Function Using the The North Star Ambulatory Assessment (NSAA).
Month 18
6 score on a scale
23 score on a scale
Score of Muscle Function Using the The North Star Ambulatory Assessment (NSAA).
Month 24
2 score on a scale
23 score on a scale

Adverse Events

Cohort 1 (Minimal Efficacious Dose) rAAVrh74.MCK.GALGT2

Serious events: 0 serious events
Other events: 1 other events
Deaths: 0 deaths

Cohort 1 rAAVrh74.MCK.GALGT2

Serious events: 0 serious events
Other events: 1 other events
Deaths: 0 deaths

Serious adverse events

Adverse event data not reported

Other adverse events

Other adverse events
Measure
Cohort 1 (Minimal Efficacious Dose) rAAVrh74.MCK.GALGT2
n=1 participants at risk
N = 1 \[2.5 x E13 vg/kg per leg, delivered bilaterally (total 5.0 x E13 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Cohort 1 rAAVrh74.MCK.GALGT2
n=1 participants at risk
N = 1 \[5 x E13 vg/kg per leg, delivered bilaterally (total 1.0 x E14 vg/kg)\] rAAVrh74.MCK.GALGT2: Adeno-associated virus serotype rh74 carrying the GALGT2 gene under the control of a MCK promoter (rAAVrh74.MCK.GALGT2) will be delivered one time to each of the lower limbs through the femoral artery using an intravascular limb infusion technique (ILI)
Vascular disorders
Bleeding at the femoral catheterization site
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Vascular disorders
Bruising
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Cardiac disorders
Decrease in ejection fraction
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Blood and lymphatic system disorders
Low Hemoglobin
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Blood and lymphatic system disorders
Decreased Lymphocyte
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
100.0%
1/1 • Number of events 2 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Endocrine disorders
Cushingoid Face
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Blood and lymphatic system disorders
Pharyngitis and Adenitis
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Gastrointestinal disorders
Vomiting
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Endocrine disorders
Weight Gain
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
Cardiac disorders
Tachycardia
100.0%
1/1 • Number of events 1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.
0.00%
0/1 • Adverse events started to be collected on Day 0 as defined by the day of Gene Transfer and continued through during the active 2-year period following gene transfer as described in the protocol.

Additional Information

Dr. Kevin Flanigan

Abigail Wexner Research Institute at Nationwide Children's Hospital

Phone: 614-355-2947

Results disclosure agreements

  • Principal investigator is a sponsor employee
  • Publication restrictions are in place