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

Study ID
12-375B

Cancer Related
No

Healthy Volunteers
No

Study Sites

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

Contact
Leah Adix
214/648-2139
leah.adix@childrens.com

Principal Investigator
Zora Rogers

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
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.

Summary


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
contraception

- 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