Leucine in DBA: The Use of Novel Therapies to Reconstitute Blood Cell Production and Promote Organ Performance, using Bone Marrow Failure as a Model: A Pilot, Phase I/II Study of the Amino Acid Leucine in the Treatment of Patients with Transfusion-Dependent Diamond Blackfan Anemia
Study ID: STU 032013-081
This research study is being done to learn of other ways to treat Diamond Blackfan anemia (DBa). Subjects diagnosed with DBa, two years of age or older, receiving chronic red cell transfusion therapy are eligible to participate. This study is attempting to find an alternative treatment to better the quality of life for patients with DBa. This study will use the amino acid supplement leucine concurrently with continuing blood transfusions (standard treatment) in an effort to decrease the interval that transfusions are required and/or the volume that is required. Most research will occur during standard of care visits, although some additional visits are required for laboratory safety tests.
1. Transfusion dependent DBA age 2 years and older. 2. Transfusion dependence is defined as >10 cc/kg or if over 60 kg 2 units of RBC per 28 days averaged over 84 days (3 months) prior to study entry. 3. Diagnostic and supporting criteria for the diagnosis of DBA as published in British Journal of Haematology (see page 15) of protocol for table of criteria) 4. The study is restricted to patients who are receiving no DBA specific therapy other than red blood cell transfusions. 5. Patient should have adequate renal function defined as: - Creatinine clearance or radioisotope GFR >= 70ml/min/1.73 m2 6. Patient should have adequate liver function defined as: - Total Bilirubin <= 1.5 x upper limit of normal (ULN) for age, and - SGPT (ALT) < 5 x upper limit of normal (ULN) for age - Serum albumin >= 2 g/dL 7. Negative serum [BETA]-HCG if subject is a menstruating female and documentation of adequate contraception. 8. Signed informed consent. 9. Registration in the Diamond Blackfan Anemia Registry (DBAR) may be offered but is not required for study enrollment.