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

Diamond Blackfan Anemia Clinical Trial

— LeucineDBA  

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

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT01362595
• Other study ID #: 12-375B
• Status: Completed
• Phase: Phase 1/Phase 2
• Start date: June 2013
• Est. completion date: November 30, 2020

Study information

• Verified date: November 2022
• Source: Northwell Health
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial 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.

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 information / eligibility

• Status: Completed
• Enrollment: 55
• Est. completion date: November 30, 2020
• Est. primary completion date: June 30, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: 2 Years and older

Eligibility

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

Related Conditions & MeSH terms

• Anemia
• Anemia, Aplastic
• Anemia, Diamond-Blackfan
• Blackfan Diamond Syndrome
• Congenital Hypoplastic Anemia
• DBA
• Diamond Blackfan Anemia
• Pure Red Cell Aplasia
• Red-Cell Aplasia, Pure

Intervention

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

Locations

Country	Name	City	State
United States	University of Michigan C.S. Mott Children's Hospital	Ann Arbor	Michigan
United States	Boston Children's Hospital	Boston	Massachusetts
United States	University of Missouri-Columbia Women's and Children's Hospital	Columbia	Missouri
United States	UT Southwestern Medical Center	Dallas	Texas
United States	Riley Hospital for Children	Indianapolis	Indiana
United States	Children's Specialty Center of Nevada	Las Vegas	Nevada
United States	University of Louisville	Louisville	Kentucky
United States	Cohen Children's Medical Center of New York	New Hyde Park	New York
United States	Stanford University Medical Center	Palo Alto	California
United States	Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Phoenix Children's Hospital	Phoenix	Arizona

Sponsors (1)

Lead Sponsor	Collaborator
Northwell Health

Country where clinical trial is conducted

United States, 

References & Publications (56)

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* Note: There are 56 references in all — Click here to view all references

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia	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	9 Months
Secondary	Severe Adverse Events Attributable to Leucine	Adverse events occurring while participants were on Leucine	9 months

External Links

•   Daniella Maria Arturi Foundation is a family sponsored group which facilitates research for DBA.
•   Diamond Blackfan Anemia Registry - a registry for patients with DBA in North America
•   The DBA foundation is a family sponsored organization who raise funds for research and provides emotional support to families.