Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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UNKNOWN
PHASE2
30 participants
INTERVENTIONAL
2014-09-30
2016-03-31
Brief Summary
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Mutations affecting genes encoding ribosomal proteins cause DBA. Genetic studies have identified heterozygous mutations in at least one of eight ribosomal protein genes in up to 50% of cases.
25% of patients carry a mutation in the ribosomal protein (RP)S19 gene, whereas mutations in RPS24, RPS17, RPL35A, RPL11, and RPL5 are rare.
p53 activation has been identified as a key component in the pathophysiology of DBA after cellular and molecular studies. Other potential mechanisms that warrant further investigation include impaired translation as the result of ribosomal insufficiency, which may be ameliorated by Leucine supplementation.
Despite significant improvements in understanding of the pathophysiology of Diamond Blackfan anemia (DBA), there have been few advances in therapy. The cornerstones of treatment remain corticosteroids,chronic red blood cell transfusions, and hematopoietic stem cell transplantation, each of which is fraught with complications. Other treatments have been shown to be effective in only a few patients or in individual case reports : IL-3, cyclosporine (alone or in combination with steroids), metaclopramide. Gene therapy is still a part of research programs.
There are some indications that the Amino Acid (AA) L-leucine, a translation enhancer, may have some efficacy in DBA and 5q-syndrome, which has the same altered ribosome functions as the DBA. L-leucine is an essential AA that is unique among the branched-chain AA acting as a nutrient regulator of protein synthesis in skeletal muscle and adipose tissue.
Several preclinical studies with DBA lymphocytes exposed to various L-leucine doses, have demonstrated that protein synthesis can be increased by using high doses L-leucine.
Recent clinical data on L-leucine therapeutic use have demonstrated increase the hemoglobin level and transfusion independence in patients with DBA and 5q-syndrom.
These data support the rationale for clinical trial on L-leucine use as a therapeutic agent for DBA patients.
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Detailed Description
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Conditions
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Study Design
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NA
SINGLE_GROUP
TREATMENT
NONE
Study Groups
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L-leucine pills
L-leucine , dose- 700mg/m2 , per os, three time a day, course duration 6 months
L-leucine
L-leucine pills per os for 6 months
Interventions
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L-leucine
L-leucine pills per os for 6 months
Eligibility Criteria
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Inclusion Criteria
* diagnosed Diamond Blackfan Anemia
* transfusion dependenсe
* adequate renal function
* adequate liver function
* negative B-HCG and adequate contraception
Exclusion Criteria
* diagnosed AA metabolism disorder
* prior HSCT
* pregnancy or planning to become pregnant
1 Year
20 Years
ALL
No
Sponsors
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Federal Scientific Clinical Centre of Pediatric Hematology, Oncology and Immunology named after Dmitry Rogache
OTHER
Responsible Party
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Principal Investigators
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Natalia - SMETANINA, MD, PhD
Role: PRINCIPAL_INVESTIGATOR
FSCCPHOI, Outpatient Department
Locations
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Federal Scientific Clinical Centre of Pediatric Hematology Oncology Immunology n.a. Dmitry Rogachev
Moscow, , Russia
Countries
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Central Contacts
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Facility Contacts
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Other Identifiers
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Ru0001
Identifier Type: -
Identifier Source: org_study_id
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