Low-Dose Danazol for the Treatment of Telomere Related Diseases

Completed · Phase 2

Conditions studied: Telomere Disease

In brief

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.

Key facts

Study ID: NCT03312400
Run by: National Heart, Lung, and Blood Institute (NHLBI)
People needed: 18
Starts: 2018-02-08
Expected to finish: 2025-10-31
Last updated by the study team: 2026-06-25

Who can join

Age: 3 and older, up to 99. Sex: any. Healthy volunteers: not accepted.

You may not qualify if…

Patients on androgen hormones to include testosterone or high dose estrogen (estradiol 0.5 mg/day or greater) for the12 months prior to enrollment
Patients with active thrombosis or thromboembolic disease and history of such events, undiagnosed abnormal genital bleeding, porphyria, androgendependent tumor, or prostatic hypertrophy
Patients with pulmonary fibrosis who are receiving anti-fibrotic drug treatment, such as pirfenidone or nintedanib unless stable on anti-fibrotic drug for at least 6 months prior to starting on danazol as demonstrated by PFTs.
Patients with active hepatitis B or C
Patients who have received a bone marrow transplant
Patient with other hereditary bone marrow failure syndromes such as Fanconi anemia or Diamond Blackfan anemia
Patients with infections not adequately responding to appropriate therapy
Current pregnancy, or unwillingness to take oral contraceptives or use the barrier methods of birth control or practice abstinence to refrain from pregnancy if of childbearing potential during the course of the study
Lactating women, due to the potentially harmful effects on the nursing child
Patients with cancer who are actively receiving systemic chemotherapeutic treatment or who take drugs with hematological effects
Patients with decompensated liver disease to include persistent ascites, encephalopathy, variceal hemorrhage, or MELD score of 10 or greater
Inability to understand the investigational nature of the study or to give informed consent or without a legally authorized representative or surrogate that can provide informed consent
Inability to swallow a capsule

Where it is running

National Institutes of Health Clinical Center — Bethesda, Maryland, United States

Full record on ClinicalTrials.gov

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