Status:

TERMINATED

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

Lead Sponsor:

Boston Children's Hospital

Conditions:

Fanconi Anemia

Dyskeratosis Congenita

Eligibility:

All Genders

3+ years

Phase:

PHASE1

PHASE2

Brief Summary

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 masculi...

Detailed Description

Eligible patients with either Fanconi anemia (FA) or Dyskeratosis congenita (DC) will initially receive danazol at a dose of 5 mg/kg/d orally, rounded to the nearest 100 mg. For the first 8 weeks, the...

Eligibility Criteria

Inclusion

  • 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).
  • 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
  • Negative pregnancy test by hCG testing, if of child-bearing potential.
  • Agreement to use a medically approved form of birth control, if of child-bearing potential.
  • Signed informed consent by the patient or legally authorized representative.
  • Patients must be either 3 years of age or \> 14 kg.

Exclusion

  • Malignancy
  • Concurrent enrollment in any other study using an investigational drug.
  • Concurrent use of anticoagulants.
  • Use of androgen therapy within last three months.
  • Patients with liver disease as defined by SGOT, SGPT or bilirubin greater than the upper limit of normal.
  • Patients with renal disease as defined by serum creatinine greater than the upper limit of normal for age.
  • Patients less than either 3 years of age or 14 kg.
  • Patients who have HLA matched sibling donors.

Key Trial Info

Start Date :

November 1 2009

Trial Type :

INTERVENTIONAL

Allocation :

ACTUAL

End Date :

May 1 2014

Estimated Enrollment :

5 Patients enrolled

Trial Details

Trial ID

NCT01001598

Start Date

November 1 2009

End Date

May 1 2014

Last Update

February 19 2019

Active Locations (1)

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Page 1 of 1 (1 locations)

1

Children's Hospital Boston

Boston, Massachusetts, United States, 02115