Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
- Conditions
- Diamond Blackfan AnemiaCongenital Hypoplastic AnemiaPure Red Cell AplasiaBlackfan Diamond SyndromeDBA
- Interventions
- Registration Number
- NCT01362595
- Lead Sponsor
- Northwell Health
- Brief Summary
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.
- 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.
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 55
- 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
- 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 & Design
- Study Type
- INTERVENTIONAL
- Study Design
- SINGLE_GROUP
- Arm && Interventions
Group Intervention Description Leucine leucine No alternative treatment arm
- Primary Outcome Measures
Name Time Method Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia 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
- Secondary Outcome Measures
Name Time Method Severe Adverse Events Attributable to Leucine 9 months Adverse events occurring while participants were on Leucine
Trial Locations
- Locations (11)
Boston Children's Hospital
šŗšøBoston, Massachusetts, United States
University of Missouri-Columbia Women's and Children's Hospital
šŗšøColumbia, Missouri, United States
UT Southwestern Medical Center
šŗšøDallas, Texas, United States
Stanford University Medical Center
šŗšøPalo Alto, California, United States
Riley Hospital for Children
šŗšøIndianapolis, Indiana, United States
Children's Specialty Center of Nevada
šŗšøLas Vegas, Nevada, United States
Cohen Children's Medical Center of New York
šŗšøNew Hyde Park, New York, United States
Phoenix Children's Hospital
šŗšøPhoenix, Arizona, United States
Children's Hospital of Philadelphia
šŗšøPhiladelphia, Pennsylvania, United States
University of Louisville
šŗšøLouisville, Kentucky, United States
University of Michigan C.S. Mott Children's Hospital
šŗšøAnn Arbor, Michigan, United States