Nucleoside Therapy in Patients With Telomere Biology Disorders

Part of paid clinical trials in Boston, Massachusetts.

Sponsor
Suneet Agarwal
Study ID
NCT06817590
Phase
PHASE1
Status
Recruiting
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Conditions

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

Eligibility Criteria

Sex
ALL
Age
1 Year - 70 Years
Healthy Volunteers
Not accepted

Interventions

  • deoxycytidine — DRUG
    Oral administration, in combination with deoxythymidine
  • deoxythymidine — DRUG
    Oral administration, in combination with deoxycytidine

Study Details

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.

Key Dates

Start date
Sep 29, 2025
Status verified
Sep 2025
Primary completion
Jun 30, 2028
Completion
Jun 30, 2029

Study Design

Enrollment
36 participants (estimated)
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
TREATMENT

Arms

  • Experimental: dC/dT
    Participants will take study therapy three times daily over 24 weeks with dose escalation.

Primary Outcome Measure

Incidence of treatment-related diarrhea [Tolerability] [ Time Frame: 8 weeks from study drug initiation ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
Boston Childrens HospitalBostonMassachusetts02115
Helen Reed, MD, MPH
[email protected]
857-218-4578
Elizabeth Korn, BS
[email protected]
857-218-4578
Helen Reed, MD, MPH (PRINCIPAL_INVESTIGATOR)

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By research site
Boston Childrens Hospital· Boston, MA

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