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

Northwell Health

Status and phase: Completed; Phase 2; Phase 1

Conditions: Pure Red Cell Aplasia; Diamond Blackfan Anemia; Blackfan Diamond Syndrome; DBA; Congenital Hypoplastic Anemia

Treatments: Drug: leucine

Study type: Interventional

Funder types: Other

Identifiers

NCT01362595

12-375B

Details and patient eligibility

About

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.

Full description

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.

Enrollment: 55 patients

Sex: All

Ages: 2+ years old

Volunteers: No Healthy Volunteers

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

Trial design

Primary purpose: Treatment

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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55 participants in 1 patient group

Leucine

Other group

Description:

No alternative treatment arm

Treatment:

Drug: leucine