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

This study is ongoing, but not recruiting participants.
Information provided by (Responsible Party):
Adrianna Vlachos, Northwell Health Identifier:
First received: May 20, 2011
Last updated: December 20, 2016
Last verified: December 2016

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.

Condition Intervention Phase
Diamond Blackfan Anemia
Blackfan Diamond Syndrome
Congenital Hypoplastic Anemia
Pure Red Cell Aplasia
Drug: leucine
Phase 1
Phase 2

Study Type: Interventional
Study Design: Intervention Model: Single Group Assignment
Masking: Open Label
Primary Purpose: Treatment
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

Resource links provided by NLM:

Further study details as provided by Northwell Health:

Primary Outcome Measures:
  • Response to Leucine in Transfusion dependent patients with Diamond Blackfan Anemia [ Time Frame: Patients will take leucine for 9 months. The study is expected to take 12-15 months to complete. ]

    The primary outcome is the type of response observed at 9 months (and 6 months). Response to treatment can be one of the following:

    1. Complete response (CR): Hb > 9 gm/dL and transfusion-independence as defined in DBA
    2. Partial response (PR): Hb < 9 gm/dL and increased reticulocyte count to greater than 1% and any increase in transfusion interval from baseline. (Baseline reticulocytes range from 0.1 to 0.5 and transfusions are usually performed every 3 weeks. An increase of reticulocyte counts to over 1 to 1.5% and any increase in transfusion interval will be considered a PR.)
    3. No response (NR): no change in transfusion requirements and no significant change in Hb or reticulocytes (or any response that does not satisfy the conditions of either a PR or CR)
    4. Progression: worsening of disease as defined by the need for more frequent transfusions

Secondary Outcome Measures:
  • Side effects of leucine in transfusion-dependent DBA patients [ Time Frame: Total study 12-15 months ]
    Secondary outcomes include safety parameters such as type, frequency, and severity of adverse events and relationship to leucine.

Estimated Enrollment: 50
Study Start Date: June 2013
Estimated Study Completion Date: January 2018
Estimated Primary Completion Date: December 2017 (Final data collection date for primary outcome measure)
Arms Assigned Interventions
No alternative treatment arm
Drug: leucine

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

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

Other Name: leucine, L-leucine

Detailed 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.


Ages Eligible for Study:   2 Years and older   (Child, Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT01362595

United States, Arizona
Phoenix Children's Hospital
Phoenix, Arizona, United States, 85016
United States, California
Stanford University Medical Center
Palo Alto, California, United States, 94304
United States, Indiana
Riley Hospital for Children
Indianapolis, Indiana, United States, 46202
United States, Kentucky
University of Louisville
Louisville, Kentucky, United States, 40202
United States, Massachusetts
Boston Children's Hospital
Boston, Massachusetts, United States, 02115
United States, Michigan
University of Michigan C.S. Mott Children's Hospital
Ann Arbor, Michigan, United States, 48109
United States, Missouri
University of Missouri-Columbia Women's and Children's Hospital
Columbia, Missouri, United States, 65201
United States, Nevada
Children's Specialty Center of Nevada
Las Vegas, Nevada, United States, 89109
United States, New York
Cohen Children's Medical Center of New York
New Hyde Park, New York, United States, 11040
United States, Pennsylvania
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104
United States, Texas
UT Southwestern Medical Center
Dallas, Texas, United States, 75390
Sponsors and Collaborators
Northwell Health
Principal Investigator: Adrianna Vlachos, MD North Shore- Long Island Jewish Medical Center; Cohen Children's Medical Center of NY
  More Information

Additional Information:
Lab Advisor(TM); Leucine Measurements in Micromedex (R) Healthcare Series. 2010Thomson Reuters
Jellin JM, Gregory P, Batz F. Pharmacist's letter/ Prescriber's Letter Natural Medicines Comprehensive Database, 3rd ed, Therapeutic Research Faculty, Stockton, CA, 2000.
Braverman ER. The Healing Nutrients Within. New Canaan, CT: Keats Publishing, Inc. 1997; 339
Gilman AG, Rall JW, Nies AD et al (eds): Goodman and Gilman's The Pharmacological Basis of Therapeutics, 8th ed. Pergamon Press, New York, NY, 1990.
AMA Department of Drugs; AMA Drug Evaluations, 6th ed. American Medical Association, Chicago, IL,1986.
Tietz NE (Ed); Clinical Guide to Laboratory Tests, 3rd ed W. B. Saunders, Philadelphia, PA, 1995.
Henry JB: Clinical Diagnosis and Management by Laboratory Methods, 20th ed. Saunders 2001.

Responsible Party: Adrianna Vlachos, MD, Principal Investigator, Northwell Health Identifier: NCT01362595     History of Changes
Other Study ID Numbers: 12-375B
Study First Received: May 20, 2011
Last Updated: December 20, 2016
Individual Participant Data  
Plan to Share IPD: No

Keywords provided by Northwell Health:
leucine administration
red blood cell transfusion
Diamond Blackfan anemia

Additional relevant MeSH terms:
Anemia, Diamond-Blackfan
Red-Cell Aplasia, Pure
Anemia, Aplastic
Anemia, Hypoplastic, Congenital
Hematologic Diseases
Bone Marrow Diseases
Genetic Diseases, Inborn processed this record on April 28, 2017