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

Study ID

Cancer Related

Healthy Volunteers

Study Sites

  • UT Southwestern-Other
  • Children’s Medical Center (Dallas, Plano, Southlake)

Michael Henson

Principal Investigator
Zora Rogers, M.D.

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

Brief Overview

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

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


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.

Participant Eligibility

Inclusion Criteria:

- 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

- signed informed consent

Exclusion Criteria:

- 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