Actively Recruiting
Nucleoside Therapy in Patients With Telomere Biology Disorders
Led by Suneet Agarwal · Updated on 2026-03-18
36
Participants Needed
1
Research Sites
191 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
Official Title
Nucleoside Therapy in Patients With Telomere Biology Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Age between 1 and 70 years
- Karnofsky performance score of at least 50 for participants 16 years or older
- Lansky performance score of at least 50 for participants younger than 16 years
- Diagnosis of telomere biology disorder confirmed by either age-adjusted telomere length below 1 percentile or pathogenic variant in a telomere biology gene
- At least one active clinical symptom related to telomere biology disorder such as blood, lung, liver, gastrointestinal, immune, eye, or neurological problems
- Ability to take liquids by mouth or feeding tube
- Use of two effective contraception methods by sexually active females who could become pregnant, with at least one highly effective
- Ability and willingness to provide informed consent or have a legal representative consent
You will not qualify if you...
- Very severe aplastic anemia requiring bone marrow transplant at enrollment, unless transplant is not planned
- Expected bone marrow transplant within 6 months
- Use of medications to improve blood production such as androgens or growth factors within 30 days before enrollment
- Chronic diarrhea or average stool output over 4 times per day
- Gastrointestinal diseases that impair absorption of study drugs
- Chronic kidney disease with low filtration rate below 60 mL/min/1.73 m2
- Use of other medications, study agents, or uncontrolled illnesses that interfere with study interpretation
- High-risk myelodysplastic syndrome, leukemia, or other active cancers
- Pregnancy
- Breastfeeding
AI-Screening
AI-Powered Screening
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Trial Site Locations
Total: 1 location
1
Boston Childrens Hospital
Boston, Massachusetts, United States, 02115
Actively Recruiting
Research Team
H
Helen Reed, MD, MPH
CONTACT
E
Elizabeth Korn, BS
CONTACT
How is the study designed?
Study Type
INTERVENTIONAL
Masking
NONE
Allocation
NA
Model
SINGLE_GROUP
Primary Purpose
TREATMENT
Number of Arms
1
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