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Nucleoside Therapy in Patients With Telomere Biology Disorders

NCT06817590 · Status: RECRUITING · Phase: PHASE1 · Type: INTERVENTIONAL · Enrollment: 36

Last updated 2026-03-18

No results posted yet for this study

Summary

The goal of this clinical trial is to learn if a combination therapy of deoxycytidine (dC) plus deoxythymidine (dT) is safe in patients with telomere biology disorders. The main questions it aims to answer are:

* Is the therapy safe with tolerable side effects in patients with telomere biology disorders?
* Are problems with the bone marrow or blood or lungs changed after 6 months of dC+dT treatment in patients with telomere biology disorders?

Participants will:

* Take study drug by mouth three times daily for 24 weeks
* Make approximately 2 visits to Boston Children's Hospital during the 24 weeks: once at the beginning of treatment and once at the end of treatment.
* Go to a lab for a blood draw an additional 6 times during treatment.
* Have 9 phone calls with a research nurse, including one 4 weeks after treatment ends.
* Keep a diary to track doses of study drug that were taken or missed.

Conditions

  • Telomere Biology Disorders
  • Dyskeratosis Congenita
  • Revesz Syndrome
  • Hoyeraal Hreidarsson Syndrome
  • Telomere Biology Disorders With Bone Marrow Failure
  • Interstitial Lung Disease Due to Systemic Disease (Telomere Biology Disorder)
  • Pulmonary Fibrosis, Familial (Telomere Biology Disorder)

Interventions

DRUG

deoxycytidine

Oral administration, in combination with deoxythymidine

DRUG

deoxythymidine

Oral administration, in combination with deoxycytidine

Sponsors & Collaborators

  • Suneet Agarwal

    lead OTHER

Principal Investigators

  • Helen Reed, MD, MPH · Boston Children's Hospital

Study Design

Allocation
NA
Purpose
TREATMENT
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
1 Year
Max Age
70 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2025-09-29
Primary Completion
2028-06-30
Completion
2029-06-30
FDA Drug
Yes

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06817590 on ClinicalTrials.gov