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

NCT01793090 · Status: COMPLETED · Phase: PHASE2 · Type: INTERVENTIONAL · Enrollment: 30

Last updated 2017-04-25

No results posted yet for this study

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.

Conditions

  • Methylmalonic Aciduria and Homocystinuria,Cblc Type
  • Genetic Disease
  • Retinopathy

Interventions

DRUG

Epi-743

EPI- 743 in capsule or formulation comprised of USP/NF 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.

OTHER

Placebo supplementation

Placebo will be administered in the same formulation as the active comparator

Sponsors & Collaborators

  • Catholic University of the Sacred Heart

    collaborator OTHER

  • Bambino Gesù Hospital and Research Institute

    lead OTHER

Principal Investigators

  • Carlo Dionisi-Vici, MD · Bambino Gesù Hospital and Research Institute

  • Giancarlo Iarossi, MD · Bambino Gesù Hospital and Research Institute

  • Daniela Ricci, MD,PhD · Catholic University of the Sacred Heart

  • Diego Martinelli, MD, PhD · Bambino Gesù Hospital and Research Institute

Study Design

Allocation
RANDOMIZED
Purpose
TREATMENT
Masking
QUADRUPLE
Model
PARALLEL

Eligibility

Min Age
1 Year
Max Age
20 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2013-01-31
Primary Completion
2013-07-31
Completion
2017-02-28

Countries

  • Italy

Study Locations

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Entities

Diseases

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT01793090 on ClinicalTrials.gov