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

Fanconi Anemia research study

What is the primary objective of this study?

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).

Who is eligible to participate?

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.

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

Fanconi Anemia

Dyskeratosis Congenita

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Drug:danazolDosage is done according to weight; capsules are 50, 100, 200 mg

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

danazolSubjects with either Fanconi anemia or Dyskeratosis congenita

Study Status

Terminated

Start Date: November 2009

Completed Date: May 2014

Phase: Phase 1/Phase 2

Type: Interventional

Design:

Primary Outcome: Number of Participants With Toxicity Associated With Danazol Therapy: Virilization, and/or New or Progressive Evidence of Either Hepatic or Renal Toxicity at a Grade II Level Using National Cancer Institute Common Toxicity Criteria (NCI-CTC).

Secondary Outcome: The Optimal Dose and Number of Participants With Hematologic Response Rate in Fanconi Anemia (FA) and Dyskeratosis Congenita (DC) Patients Receiving Danazol Therapy

Study sponsors, principal investigator, and references

Principal Investigator: Colin A Sieff, MB.BCh

Lead Sponsor: Boston Children’s Hospital

Collaborator:

More information:https://clinicaltrials.gov/show/NCT01001598

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