Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia

Trial ID or NCT#



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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.

Official Title

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

Eligibility Criteria

Ages Eligible for Study: Older than 2 Years
Sexes Eligible for Study: All
Accepts Healthy Volunteers: No
Inclusion Criteria:
  1. - diagnosed with Diamond Blackfan anemia as published in British Journal of Hematology - transfusion dependent - age 2 years and older - adequate renal function - adequate liver function - negative B-HCG if patient is a menstruating female and documentation of adequate contraception - signed informed consent
Exclusion Criteria:
  1. - Known hypersensitivity to branched chain amino acids - Diagnosis of an inborn error of amino acid metabolism disorder - Prior hematopoietic stem cell transplantation - Pregnancy, or plans to become pregnant during duration of trial


Anupama Narla

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Peds Hem/Onc CRA's