CompletedPhase 2

EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment

Italy30 participantsStarted 2013-01

Plain-language 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 improvement in visual function as assessed by visual acuity and eye-hand coordination and manual dexterity. Secondary Endpoints will be the improvement in neurologic function, evaluated by a battery of age-appropriated psychophysical tests, and/or in objective electrophysiological tests such as Visual Evoked potentials (VEP) and Electroretinogram (ERG) and/or the change in serum markers of redox state.

Who can participate

Age range1 Year – 20 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

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.

What they're measuring

Change in Visual Function

Timeframe: Baseline, six months, twelve months

Trial details

NCT IDNCT01793090

SponsorBambino Gesù Hospital and Research Institute

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2013-07

View on ClinicalTrials.gov More Methylmalonic Aciduria and Homocystinuria,Cblc Type trials