Actively Recruiting

Phase 2
Age: 3Years - 99Years
All Genders
NCT03312400

Low-Dose Danazol for the Treatment of Telomere Related Diseases

Led by National Heart, Lung, and Blood Institute (NHLBI) · Updated on 2026-04-24

40

Participants Needed

1

Research Sites

507 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Background: DNA is a structure in the body. It contains data about how the body develops and works. Telomeres are found on the end of chromosomes in DNA. Some people with short telomeres or other gene changes can develop diseases of the bone marrow, lung, and liver. Researchers want to see if low doses of the hormone drug danazol can help. Objective: To study the safety and effect of low dose danazol. Eligibility: People ages 3 and older with a telomere disease who have either very short telomeres and a specific gene change. They must also show signs of aplastic anemia, lung, or liver disease. Design: Participants will be screened in another protocol. Participants will have: * Medical history * Physical exam * Blood tests * Lung exam. They will breathe into an instrument that records the amount and rate of air breathed in and out over a period of time. 6-minute walking test. * Abdominal ultrasound and liver scan. These tests use sound waves to measure the fibrosis in the liver. Some participants will have: * Pregnancy test * Small sample of the liver removed * Bone marrow biopsy. The bone will be numbed and a small needle will take a sample of the marrow. All participants will have hormone levels checked. All child participants will see a pediatric endocrinologist. Children may need to have a hand x-ray. We will monitor patients for 6 months before starting danazol. Participants will take danazol by mouth twice a day for 1 year. Participants must return to the clinic at 6 months and 12 months while on danazol and 6 months after stopping it. They will have blood and urine tests, a lung exam, abdominal ultrasound, and liver scan.

CONDITIONS

Official Title

Low-Dose Danazol for the Treatment of Telomere Related Diseases

Who Can Participate

Age: 3Years - 99Years
All Genders

Eligibility Criteria

Eligible

You may qualify if you...

  • Age-adjusted telomere length at or below the 1st percentile, or at or below the 10th percentile if a pathogenic mutation in a telomere gene is present
  • Mutation in a telomere maintenance gene confirmed by certified laboratory
  • Age 3 years or older
  • Weight 12 kg or more
  • Presence of anemia (hemoglobin ≤ 10 g/dL), thrombocytopenia (platelets ≤ 50,000/microliter), neutropenia (absolute neutrophil count ≤ 1,000/microliter), pulmonary fibrosis diagnosed by biopsy or CT scan, or hepatic fibrosis diagnosed by Fibroscan >10 kPa, liver ultrasound showing cirrhosis or splenomegaly, or liver biopsy showing fibrosis
Not Eligible

You will not qualify if you...

  • Use of androgen hormones (testosterone or high dose estrogen) in the 12 months before enrollment
  • Active thrombosis or thromboembolic disease, undiagnosed abnormal genital bleeding, porphyria, androgen-dependent tumors, or prostatic hypertrophy
  • Use of anti-fibrotic drugs for pulmonary fibrosis unless stable for at least 6 months
  • Active hepatitis B or C infection
  • Previous bone marrow transplant
  • Other hereditary bone marrow failure syndromes like Fanconi anemia or Diamond Blackfan anemia
  • Infections not responding to treatment
  • Current pregnancy or unwillingness to use birth control during the study if able to become pregnant
  • Breastfeeding women
  • Active cancer treatment with chemotherapy or drugs affecting blood cells
  • Decompensated liver disease including persistent ascites, encephalopathy, variceal bleeding, or MELD score ≥10
  • Inability to understand the study or provide informed consent
  • Inability to swallow capsules

AI-Screening

AI-Powered Screening

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Trial Site Locations

Total: 1 location

1

National Institutes of Health Clinical Center

Bethesda, Maryland, United States, 20892

Actively Recruiting

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Research Team

T

Tania R Machado

CONTACT

E

Emma M Groarke, M.D.

CONTACT

How is the study designed?

Study Type

INTERVENTIONAL

Masking

NONE

Allocation

RANDOMIZED

Model

CROSSOVER

Primary Purpose

TREATMENT

Number of Arms

2

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