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BIOTIN: BIOtinidase Test In Optic-Neuropathy

Sponsor
Fondation Ophtalmologique Adolphe de Rothschild (Other)
Overall Status
Completed
CT.gov ID
NCT03268681
Collaborator
(none)
12
Enrollment
1
Location
12
Actual Duration (Months)
1
Patients Per Site Per Month

Study Details

Study Description

Brief Summary

Biotinidase is an enzyme that recycles biotin, a water-soluble vitamin essential as a coenzyme for four carboxylases that are involved in gluconeogenesis, fatty acid synthesis, and in the catabolism of several branch-chain amino acids. Biotinidase deficiency (BD) is an autosomal recessively inherited disorder. Patients with profound BD (<10% of mean normal serum biotinidase activity) presents, usually during early childhood, with neurological (seizures, hypotonia, ataxia, developmental delay, vision problems, and/or hearing loss) and non-neurological findings (metabolic acidosis, respiratory difficulties, alopecia and/or skin rash) that may progress to coma or death if untreated.

Three cases of adult-onset biotinidase deficiency with reversible optic neuropathy have recently been described in France, where there is no neonatal screening of BP. Once treated with Biotin, patients' vision was fully restored.

This study aims to assess the prevalence of BP among a population of patients with idiopathic optic neuropathy, and to assess the efficacy of Biotin supplementation on visual impairment in these patients.

Condition or Disease Intervention/Treatment Phase

    Study Design

    Study Type:
    Observational
    Actual Enrollment :
    12 participants
    Observational Model:
    Case-Only
    Time Perspective:
    Cross-Sectional
    Official Title:
    BIOtinidase Test In Optic-Neuropathy
    Actual Study Start Date :
    Jul 26, 2017
    Actual Primary Completion Date :
    May 30, 2018
    Actual Study Completion Date :
    Jul 26, 2018

    Outcome Measures

    Primary Outcome Measures

    1. prevalence of biotin deficiency among patients with idiopathic optic neuropathy [baseline]

      measure of biotinidase activity (nkat/l unit)

    Eligibility Criteria

    Criteria

    Ages Eligible for Study:
    N/A and Older
    Sexes Eligible for Study:
    All
    Accepts Healthy Volunteers:
    No
    Inclusion Criteria:

    • patient with bilateral optic neuropathy

    • symptoms beginning before 50 years old

    • diagnosed for more than 1 months

    • etiology unknown

    Exclusion Criteria:
    • none

    Contacts and Locations

    Locations

    Site City State Country Postal Code
    1 Fondation OPH A. de Rothschild Paris France

    Sponsors and Collaborators

    • Fondation Ophtalmologique Adolphe de Rothschild

    Investigators

    • Principal Investigator: Romain Deschamps, MD, Fondation OPH A de Rothschild

    Study Documents (Full-Text)

    None provided.

    More Information

    Publications

    None provided.
    Responsible Party:
    Fondation Ophtalmologique Adolphe de Rothschild
    ClinicalTrials.gov Identifier:
    NCT03268681
    Other Study ID Numbers:
    • RDS_2017_14
    First Posted:
    Aug 31, 2017
    Last Update Posted:
    Oct 18, 2018
    Last Verified:
    Oct 1, 2018
    Individual Participant Data (IPD) Sharing Statement:
    No
    Plan to Share IPD:
    No
    Studies a U.S. FDA-regulated Drug Product:
    No
    Studies a U.S. FDA-regulated Device Product:
    No
    Additional relevant MeSH terms:
    Optic Nerve Diseases
    Biotinidase Deficiency

    Study Results

    No Results Posted as of Oct 18, 2018