Active — Not RecruitingPhase 2

Eltrombopag for People With Fanconi Anemia

United States25 participantsStarted 2018-11-02

Plain-language summary

Background: Fanconi anemia is a genetic disease. Some people with it have reduced blood cell counts. This means their bone marrow no longer works properly. These people may need blood transfusions for anemia (low red blood cells) or low platelet counts or bleeding. Researchers want to see if a new drug will help people with this disease. Objective: To find out if a new drug, eltrombopag, is effective in people with Fanconi anemia. To know how long the drug needs to be given to improve blood counts. Eligibility: People at least 6 years old with Fanconi anemia with reduced blood cell counts. Design: Participants will be screened with blood and urine tests. They will repeat this before starting to take the study drug. Participants will take eltrombopag pills by mouth once a day for 24 weeks. They will be monitored closely for side effects. Participants will have blood tests every 2 weeks while on eltrombopag. Participants will visit NIH 3 months and 6 months after starting eltrombopag. At these visits, participants will: Answer questions about their medical history, how they are feeling, and their quality of life Have a physical exam Have blood and urine tests Have a bone marrow sample taken by needle from the hip. The area will be numbed. If participants blood cell counts improve, they might join the extended access part of the study. They will continue taking eltrombopag for 3 years and sign a different consent. After 24 weeks of treatment, if there is no improvement in blood cell counts, participants will stop taking eltrombopag. They will return for an optional follow-up visit that repeats the study visits....

Who can participate

Age range6 Years – 99 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: * Confirmed diagnosis of Fanconi anemia. Diagnosis is confirmed by a biallelic mutation in a known FANC gene and/or by positive chromosome breakage analysis in lymphocytes and/or skin fibroblasts (for mosaicism). * One or more of the following three clinically-significant cytopenias: platelet count \<= 50,000/microliter or platelet-transfusion-dependence (requiring at least 4 platelet transfusions in the 8 weeks prior to study entry, see definition of platelet transfusion units at 8.2.1); neutrophil count less than 1000/microliter; hemoglobin less than 10 g/dL or red cell transfusion- dependence (requiring at least 4 transfusions of PRBCs (adult patient 4 units PRBC, pediatric patients at least 10ml/kg/transfusion) in the eight weeks prior to study entry. * Failed or declined treatment with androgens (danazol or oxymetholone). * Age \>= 6 years old. * Weight \>=10kg. EXCLUSION CRITERIA: * Known active or uncontrolled infections not adequately responding to appropriate therapy. * Evidence for MDS or AML as defined by WHO criteria. * Any cytogenetic abnormality associated with poor prognosis in FA, including gains of chromosome 3q, gains of chromosome 1q, deletions of chromosome 7, and complex cytogenetics (88-90) identified from bone marrow aspirate. Patients with known biallelic mutations in BRCA2 (FANCD1). * Active malignancy or likelihood of recurrence of malignancies within 12 months * Moribund status such that death within 7 to 10 days is likely. C…

What they're measuring

Proportion of drug responders

Timeframe: 6 months

Toxicity profile

Timeframe: 6 months

Trial details

NCT IDNCT03206086

SponsorNational Heart, Lung, and Blood Institute (NHLBI)

Sponsor typeNIH

Study typeINTERVENTIONAL

Primary completion2025-08-01