Phase 2 N=55 Treatment

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

Diamond Blackfan Anemia · Blackfan Diamond Syndrome · DBA · Congenital Hypoplastic Anemia · Pure Red Cell Aplasia

Bottom Line

View on ClinicalTrials.gov: NCT01362595 ↗

Enrolled (actual)

Serious AEs

0.0%

Results posted

Dec 2022

Primary outcome: Primary: Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia — 2; 5; 36; 0 Participants

Study Design & Population

Study type: Interventional
Phase: Phase 2
Interventions: leucine (Drug)
Age: Pediatric, Adult, Older Adult · 2+ yrs
Sex: All
Sponsor: Northwell Health
Primary completion: Jun 2018

Outcome Measures

Outcome	Result	p-value
PRIMARY Response to Leucine in Transfusion Dependent Patients With Diamond Blackfan Anemia	2; 5; 36; 0	—
SECONDARY Severe Adverse Events Attributable to Leucine	41; 2	—

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.

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

View full record on ClinicalTrials.gov →

Data sourced from ClinicalTrials.gov (NCT01362595). Outcome figures and adverse-event rates are extracted automatically from the registry's posted results and are provided for clinician reference, not as a substitute for the primary publication.