Clinical trial NCT01362595: Pilot Phase I/II Study of Amino Acid Leucine in Treatment of Patients With Transfusion-Dependent Diamond Blackfan Anemia
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
Study type: INTERVENTIONAL
Overall status: COMPLETED
Phase: PHASE1
PHASE2
Conditions: Diamond Blackfan Anemia
Blackfan Diamond Syndrome
DBA
Congenital Hypoplastic Anemia
Pure Red Cell Aplasia
Keywords: leucine administration
red blood cell transfusion
Diamond Blackfan anemia
Lead sponsor: Northwell Health
Sponsor class: OTHER
First posted: 2011-05-30
Enrollment: 55
Sex: ALL
Minimum age (years): 2
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: TREATMENT

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.

Eligibility criteria: 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

Primary outcomes:
measure: Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia
timeFrame: 9 Months
Secondary outcomes:
measure: Severe Adverse Events Attributable to Leucine
timeFrame: 9 months
Other outcomes:
Locations:
city: Phoenix
country: United States
facility: Phoenix Children's Hospital
state: Arizona
city: Palo Alto
country: United States
facility: Stanford University Medical Center
state: California
city: Indianapolis
country: United States
facility: Riley Hospital for Children
state: Indiana
city: Louisville
country: United States
facility: University of Louisville
state: Kentucky
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Ann Arbor
country: United States
facility: University of Michigan C.S. Mott Children's Hospital
state: Michigan
city: Columbia
country: United States
facility: University of Missouri-Columbia Women's and Children's Hospital
state: Missouri
city: Las Vegas
country: United States
facility: Children's Specialty Center of Nevada
state: Nevada
city: New Hyde Park
country: United States
facility: Cohen Children's Medical Center of New York
state: New York
city: Philadelphia
country: United States
facility: Children's Hospital of Philadelphia
state: Pennsylvania
city: Dallas
country: United States
facility: UT Southwestern Medical Center
state: Texas
Study officials:
affiliation: Feinstein Institutes for Medical Research; Cohen Children's Medical Center
name: Adrianna Vlachos, MD
role: PRINCIPAL_INVESTIGATOR
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