Oxandrolone for the Treatment of Bone Marrow Aplasia in Fanconi Anemia

The primary purpose of this study is to evaluate the safety of the drug oxandrolone in
patients with Fanconi anemia (FA), and secondarily to determine if this drug can help in the
treatment of bone marrow failure in these patients. It is hoped that oxandrolone will have
less side effects than oxymetholone, the androgen used most frequently in the short-term
treatment of bone marrow failure in FA patients. Subjects will be enrolled for approximately
18 to 30 months (12 - 24 months of treatment and 6 months additional monitoring). The
oxandrolone starting dose is 0.04mg/kg/day. Study monitoring includes weekly complete blood
counts, monthly serum chemistry labs, quarterly physical examinations including virilization
exams and liver ultrasounds. Semi-annually, hand radiographs are obtained for bone
maturation and behavioral assessments are conducted to detect any aggressive behavior or
mood changes. If no improvement n the subject’s blood counts are noted after 4 months of
therapy, the dose will be increased to 0.08mg/kg/day for a period of 4 more months. If no
improvement is noted after a total of eight months, oxandrolone will be discontinued. If
the blood counts show improvement, then the drug will continue for a minimum of twelve
months. Subjects may remain on study and receive a total of 24 months of therapy if they
have a response in their blood counts without unacceptable side effects. Post-treatment
monitoring includes blood work and ultrasound every three months, and hand radiograph at six
months.