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

Diamond Blackfan Anemia research study

What is the primary objective of this study?

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.

Who is eligible to participate?

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

Which medical condition, disease, disorder, syndrome, illness, or injury is researched?

Diamond Blackfan Anemia

Blackfan Diamond Syndrome


Congenital Hypoplastic Anemia

Pure Red Cell Aplasia

Study Interventions

Interventions can include giving participants drugs, medical devices, procedures, vaccines, and other products that are either investigational or already available or noninvasive approaches such as surveys, education, and interviews.

Drug:leucineDosage of leucine will be dependent on body surface area (BSA): leucine 700 mg/m2/dose by mouth three times a day

Study Arms

Research studies and clinical trials typically have two or more research arms. An arm is a group of people who receive the same treatment in the study.

LeucineNo alternative treatment arm

Study Status

Active, not recruiting

Start Date: June 2013

Completed Date: June 30, 2018

Phase: Phase 1/Phase 2

Type: Interventional


Primary Outcome: Response to Leucine in Transfusion dependent patients with Diamond Blackfan Anemia

Secondary Outcome: Side effects of leucine in transfusion-dependent DBA patients

Study sponsors, principal investigator, and references

Principal Investigator: Adrianna Vlachos, MD

Lead Sponsor: Northwell Health


More information:

Draptchinskaia N, Gustavsson P, Andersson B, Pettersson M, Willig TN, Dianzani I, Ball S, Tchernia G, Klar J, Matsson H, Tentler D, Mohandas N, Carlsson B, Dahl N. The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia. Nat Genet. 1999 Feb;21(2):169-75.

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