This study will determine the safety and possibility of giving the amino acid, leucine, in patients with Diamond Blackfan anemia(DBA)who are on dependent on red blood cell transfusions. The leucine is expected to produce a response in patients with DBA to the point where red blood cell production is increased. Red cell transfusions can then be less frequent or possibly discontinued. The investigators will study the side effects, if any, of giving leucine to DBA patients. Leucine levels of leucine will be obtained at baseline and during the study. The drug leucine will be provided in capsule form and taken 3 times a day for a total of 9 months.
Leucine will be provided to participants in the form of a capsule and will be taken three times daily. Blood hemoglobin levels will be monitored every 3-4 weeks for 9 months. The entire study will last 12-15 months in length. Subjects must be two years of age or older and on transfusion for more than six months prior to enrollment.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
TREATMENT
Masking
NONE
Enrollment
55
Dosage of leucine will be dependent on body surface area (BSA): leucine 700 mg/m2/dose by mouth three times a day
Phoenix Children's Hospital
Phoenix, Arizona, United States
Stanford University Medical Center
Palo Alto, California, United States
Riley Hospital for Children
Indianapolis, Indiana, United States
University of Louisville
Louisville, Kentucky, United States
Boston Children's Hospital
Boston, Massachusetts, United States
University of Michigan C.S. Mott Children's Hospital
Ann Arbor, Michigan, United States
University of Missouri-Columbia Women's and Children's Hospital
Columbia, Missouri, United States
Children's Specialty Center of Nevada
Las Vegas, Nevada, United States
Cohen Children's Medical Center of New York
New Hyde Park, New York, United States
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States
...and 1 more locations
Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia
The primary outcome is the type of response observed at 9 months. Response to treatment can be one of the following: 1. Complete response (CR): Hb \> 9 gm/dL and transfusion-independence as defined in DBA 2. Partial response (PR): Hb \< 9 gm/dL and increased reticulocyte count to greater than baseline. 3. No response (NR): no change in transfusion requirements and no significant change reticulocyte count from baseline 4. Progression: worsening of disease as defined by the need for more frequent transfusions
Time frame: 9 Months
Severe Adverse Events Attributable to Leucine
Adverse events occurring while participants were on Leucine
Time frame: 9 months
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