EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Methylmalonic Aciduria and Homocystinuria,Cblc Type, Genetic Disease, Retinopathy
About this trial
This is an interventional treatment trial for Methylmalonic Aciduria and Homocystinuria,Cblc Type focused on measuring Cobalamin C defect, methylmalonic aciduria with homocystinuria, Visual function, VEP, ERG, antioxidant drugs
Eligibility Criteria
Inclusion Criteria:
- 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 Criteria:
- 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.
Sites / Locations
- Bambino Gesù Hospital and Research Institute
Arms of the Study
Arm 1
Arm 2
Active Comparator
Placebo Comparator
EPI-743
Placebo supplementation
EPI- 743 in capsule or formulation comprised of USP/NF (United States Pharmacopeia and The National Formulary)Sesame Oil at a potency of 100 mg EPI-743/ 1 mL total volume. Mode of Administration: Oral with meal or G-Tube infusion with food. Dose: 100mg or 200 mg tid for 12 months, to be continued if clinically effective
placebo in the same formulation as the active comparator will be administered to patients, assigned to this arm in a randomized design