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

November 18, 2022 updated by: Adrianna Vlachos, MD, Northwell Health

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

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.

Study Overview

Status

Completed

Conditions

Intervention / Treatment

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.

Study Type

Interventional

Enrollment (Actual)

55

Phase

  • Phase 2
  • Phase 1

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

  • United States
    • Arizona
      • Phoenix, Arizona, United States, 85016
        • Phoenix Children's Hospital
    • California
      • Palo Alto, California, United States, 94304
        • Stanford University Medical Center
    • Indiana
      • Indianapolis, Indiana, United States, 46202
        • Riley Hospital for Children
    • Kentucky
      • Louisville, Kentucky, United States, 40202
        • University of Louisville
    • Massachusetts
      • Boston, Massachusetts, United States, 02115
        • Boston Children's Hospital
    • Michigan
      • Ann Arbor, Michigan, United States, 48109
        • University of Michigan C.S. Mott Children's Hospital
    • Missouri
      • Columbia, Missouri, United States, 65201
        • University of Missouri-Columbia Women's and Children's Hospital
    • Nevada
      • Las Vegas, Nevada, United States, 89109
        • Children's Specialty Center of Nevada
    • New York
      • New Hyde Park, New York, United States, 11040
        • Cohen Children's Medical Center of New York
    • Pennsylvania
      • Philadelphia, Pennsylvania, United States, 19104
        • Children's Hospital of Philadelphia
    • Texas
      • Dallas, Texas, United States, 75390
        • UT Southwestern Medical Center

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

1 year and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Treatment
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Other: Leucine
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 Names:
  • L-leucine

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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:

  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 baseline.
  3. No response (NR): no change in transfusion requirements and no significant change reticulocyte count from baseline
  4. Progression: worsening of disease as defined by the need for more frequent transfusions
9 Months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Severe Adverse Events Attributable to Leucine
Time Frame: 9 months
Adverse events occurring while participants were on Leucine
9 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Northwell Health

Investigators

  • Principal Investigator: Adrianna Vlachos, MD, Feinstein Institutes for Medical Research; Cohen Children's Medical Center

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

June 1, 2013

Primary Completion (Actual)

June 30, 2018

Study Completion (Actual)

November 30, 2020

Study Registration Dates

First Submitted

May 20, 2011

First Submitted That Met QC Criteria

May 26, 2011

First Posted (Estimate)

May 30, 2011

Study Record Updates

Last Update Posted (Actual)

December 2, 2022

Last Update Submitted That Met QC Criteria

November 18, 2022

Last Verified

November 1, 2022

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 12-375B

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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