Status:
COMPLETED
EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Lead Sponsor:
Bambino Gesù Hospital and Research Institute
Collaborating Sponsors:
Catholic University of the Sacred Heart
Conditions:
Methylmalonic Aciduria and Homocystinuria,Cblc Type
Genetic Disease
Eligibility:
All Genders
1-20 years
Phase:
PHASE2
Brief Summary
The aim of the research is to investigate the safety and efficacy of EPI-743 treatment in patients with Cbl-C defect and related visual and neurological impairment. Primary Endpoints will be the impro...
Detailed Description
Cobalamin C (Cbl-C) defect is the most common inborn error of cobalamin metabolism causing methylmalonic aciduria and homocystinuria. Cbl-Cdefect is due to impaired activity of MMACHC, a cobalamin tra...
Eligibility Criteria
Inclusion
- genetically confirmed Cbl-C defect;
- abstention from antioxidant medications (i.e. coenzyme Q10, idebenone, vitamin E) prior to trial initiation and throughout conduct of trial.
Exclusion
- allergy to EPI-743 or sesame oil (a screening test will be performed);
- abnormal coagulation;
- hepatic insufficiency with Liver Function Tests greater than 2-times normal values;
- renal insufficiency requiring dialysis;
- fat malabsorption precluding drug absorption.
Key Trial Info
Start Date :
January 1 2013
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
February 1 2017
Estimated Enrollment :
30 Patients enrolled
Trial Details
Trial ID
NCT01793090
Start Date
January 1 2013
End Date
February 1 2017
Last Update
April 25 2017
Active Locations (1)
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1
Bambino Gesù Hospital and Research Institute
Rome, Italy, 00165