Overview

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

Status:
Completed
Trial end date:
2017-02-01
Target enrollment:
0
Participant gender:
All
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.
Phase:
Phase 2
Accepts Healthy Volunteers?
No
Details
Lead Sponsor:
Bambino Gesù Hospital and Research Institute
Collaborator:
Catholic University of the Sacred Heart
Treatments:
Hydroxocobalamin
Ubiquinone
Vitamin B 12
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.