EPI-743 in Cobalamin C Defect: Effects on Visual and Neurological Impairment
Status:
Completed
Trial end date:
2017-02-01
Target enrollment:
Participant gender:
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.