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Completed

NCT Number: NCT01362595

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

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.

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Key information

Conditions

Diamond Blackfan Anemia Anemia Anemia, Aplastic Anemia, Diamond-Blackfan Anemia, Hypoplastic, Congenital Blackfan Diamond Syndrome Bone Marrow Diseases Bone Marrow Failure Disorders Congenital Bone Marrow Failure Syndromes Congenital Hypoplastic Anemia Congenital, Hereditary, and Neonatal Diseases and Abnormalities DBA Genetic Diseases, Inborn Hematologic Diseases Hemic and Lymphatic Diseases Pure Red Cell Aplasia Red-Cell Aplasia, Pure

Age range

2 year and older

Sex eligibility

All sexes

Study type

Interventional

Phase

Phase 1 / Phase 2

Primary location

Phoenix Children's Hospital, Phoenix, Arizona, United States

Loading trial locations.

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

leucine

Drug

Dosage of leucine will be dependent on body surface area (BSA):

leucine 700 mg/m2/dose by mouth three times a day

Other names: L-leucine

Primary outcomes

  1. Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia

    Time frame: 9 Months

    The primary outcome is the type of response observed at 9 months. Response to treatment can be one of the following:

    • Complete response (CR): Hb > 9 gm/dL and transfusion-independence as defined in DBA
    • Partial response (PR): Hb < 9 gm/dL and increased reticulocyte count to greater than baseline.
    • No response (NR): no change in transfusion requirements and no significant change reticulocyte count from baseline
    • Progression: worsening of disease as defined by the need for more frequent transfusions

Secondary outcomes

  1. Severe Adverse Events Attributable to Leucine

    Time frame: 9 months

    Adverse events occurring while participants were on Leucine

Sponsors and collaborators

Lead sponsor

Northwell Health

Other

Registry information

Official study 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

Acronym: LeucineDBA

Important dates

Study start
2013
Primary completion
2018
Study completion
2020
First posted
May 30, 2011
Registry last updated
Dec 2, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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