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Nucleoside Therapy for Telomere Biology Disorders

This study is testing a combination of two drugs, deoxycytidine and deoxythymidine, in people with telomere biology disorders (conditions where the protective caps on your chromosomes, called telomeres, are too short). The main goal is to see if this treatment is safe and has tolerable side effects. Researchers also want to see if the treatment helps with problems related to bone marrow, blood, or lungs after 6 months. You might be able to join if you are between 1 and 70 years old and have a diagnosed telomere biology disorder. This study is currently recruiting participants.

Study design
This is a single-arm study, meaning everyone receives the same treatment, and it plans to enroll 36 participants. It is a Phase 1 trial, which focuses on safety.
What's involved
You would take deoxycytidine and deoxythymidine by mouth three times daily for 24 weeks. You would also have about 2 visits to Boston Children's Hospital and 6 additional blood draws during this time.
Compensation
Not stated in the trial record.
Follow-up
The primary safety and tolerability endpoints are measured at 8 weeks from the start of the study drug.

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NCT06817590

Nucleoside Therapy in Patients With Telomere Biology Disorders

Recruiting
PHASE1Ages 1–70InterventionalTreatment
Suneet Agarwal
~36 participants
Updated 2026-08-04 on ClinicalTrials.gov
What's tested:deoxycytidinedeoxythymidine

At a glance

Recruiting sites
1 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Incidence of treatment-related diarrhea [Tolerability]
Measured over 8 weeks from study drug initiation
+1 more outcome measured

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)

Explore related trials

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Where it's being run

1 sites across 1 states
Massachusetts1

Study leadership

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

Who to contact

Helen Reed, MD, MPH
[email protected]
857-218-4578
Email the study team

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Eligibility criteria

Inclusion

Age ≥ 1 year and ≤ 70 years
Karnofsky performance status ≥ 50 for participants ≥16 years of age and Lansky performance status ≥ 50 for participants \<16 years of age
Diagnosis requirement. Participants must meet at least one of the following requirements for a diagnosis of a telomere biology disorder:
Participants must exhibit at least one active clinical manifestation associated with a telomere biology disorder, in the judgment of the PI, which includes but is not limited to the following: one or more peripheral blood cytopenias, bone marrow hypocellular for age, pulmonary abnormalities, liver abnormalities, gastrointestinal bleeding, immunodeficiency or immune dysregulation, ophthalmologic abnormalities, or neurologic abnormalities.
Participants must be able to take enteral liquids by mouth or enteral feeding tube.
Female participants who are sexually active and could become pregnant must use two effective methods of contraception, at least one of which must be considered a highly effective method.
Participants (or parent/legally authorized representative for minors) must demonstrate the ability to understand and willingness to provide informed consent, which will be documented using an institutionally approved informed consent procedure.
Participants must not otherwise be expected to undergo bone marrow transplantation within 6 months of enrollment.
Participants must not be taking concurrent medications intended to improve hematopoiesis such as androgens or growth factors, including granulocyte colony stimulating factor, erythropoietin, or thrombopoietin mimetics. If any of these therapies were taken previously, patients must wait 30 days after cessation of the therapy before enrollment on this trial.
Participants must not have chronic diarrhea or an average baseline stool output of more than 4 stools per day.
Participants must not have gastrointestinal disorders that may impair enteral absorption of dC/dT, such as inflammatory bowel disease or short bowel syndrome.
Participants must not have chronic kidney disease with an estimated glomerular filtration rate \< 60 mL/min/1.73 m2.
Participants must not be on other medications or study agents or have other uncontrolled intercurrent illness that could interfere with study interpretation, in the opinion of the study Principal Investigator (PI)
Participants must not have high-risk myelodysplastic syndrome or leukemia or other active malignancy.
Pregnant individuals will not be eligible for enrollment given the physiological changes in blood counts that occur during pregnancy.
Breastfeeding mothers will not be eligible for enrollment due to the unknown risk to nursing infants.

What this trial measures

  • Incidence of treatment-related diarrhea [Tolerability]8 weeks from study drug initiation

    Proportion of study participants with grade 3 or higher treatment-related diarrhea refractory to dose adjustments

  • Incidence of treatment-related adverse events [Safety]8 weeks from study drug initiation

    Proportion of patients with grade 3 or higher treatment-related adverse events refractory to dose adjustments