Safety and Efficacy Trial of Danazol in Patients With Fanconi Anemia or Dyskeratosis Congenita

Status: Recruiting
Phase: Phase 1/Phase 2
Diagnosis: Pediatric Hematology/Blood Related
NCT ID: NCT01001598 (View complete trial on
DFCI Protocol ID:


Fanconi anemia (FA) and Dyskeratosis congenita (DC) are inherited bone marrow failure syndromes. The current androgen treatments (e.g., oxymetholone) used to treat FA and DC can cause unwanted masculinizing side effects, indicating a need for a different medication. Danazol is a less potent androgen,and may therefore have fewer masculinizing side effects. Danazol is currently approved by the Food and Drug Administration (FDA) for the treatment of other diseases, but it has never been studied in patients with FA and DC. The main purpose of this study is to see if danazol is a safe treatment for FA and DC. Specifically,we would like to determine: - the best dose of danazol; - how fast hemoglobin (a protein that carries oxygen in the blood) levels rise in FA and DC patients receiving danazol therapy; and - the genetic pattern (known as expression profile) of certain cells in response to danazol, which can predict how well people respond to the medication. Subjects who enroll in the study will be treated with danazol for up to 24 weeks (about 6 months), and will have up to 11 study visits, including followup visits at 38 weeks (9 months) and 52 weeks (one year).


Conducting Institutions:
Children's Hospital Boston, Dana-Farber Cancer Institute

Overall PI:
Colin Sieff, MD, Children's Hospital Boston

Site-responsible Investigators:

Dana-Farber Cancer Institute: Childrens Hospital Pediatric Clinical Translation Investigation Program CTIP,

Eligibility Criteria

Inclusion Criteria: 1. Patients must be diagnosed with FA that is documented by a positive test for increased chromosomal breakage with mitomycin C or diepoxybutane. DC patients must have clinical features consistent with the diagnosis, abnormally short lymphocyte telomeres < 1st centile by flow-FISH evaluation, or mutation in one of the known DC genes (DKC1, TERT, TERC, TINF2, NOP10, NHP2). 2. At least the following peripheral blood cytopenias: (without transfusion) Absolute neutrophil count < 500/uL or Platelet count < 30,000/uL or Hemoglobin < 8.0 gm/dl 3. Negative pregnancy test by hCG testing, if of child-bearing potential. 4. Agreement to use a medically approved form of birth control, if of child-bearing potential. 5. Signed informed consent by the patient or legally authorized representative. 6. Patients must be either 3 years of age or > 14 kg. Exclusion Criteria: 1. Malignancy 2. Concurrent enrollment in any other study using an investigational drug. 3. Concurrent use of anticoagulants. 4. Use of androgen therapy within last three months. 5. Patients with liver disease as defined by SGOT, SGPT or bilirubin greater than the upper limit of normal. 6. Patients with renal disease as defined by serum creatinine greater than the upper limit of normal for age. 7. Patients less than either 3 years of age or 14 kg. 8. Patients who have HLA matched sibling donors.
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