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BIOtinidase Test In Optic-Neuropathy

NCT03268681 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 12

Last updated 2018-10-18

No results posted yet for this study

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.

Conditions

  • Biotin Deficiency
  • Optic Neuropathy

Sponsors & Collaborators

  • Fondation Ophtalmologique Adolphe de Rothschild

    lead NETWORK

Principal Investigators

  • Romain Deschamps, MD · Fondation OPH A de Rothschild

Eligibility

Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2017-07-26
Primary Completion
2018-05-30
Completion
2018-07-26

Countries

  • France

Study Locations

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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 NCT03268681 on ClinicalTrials.gov