BIOtinidase Test In Optic-Neuropathy

NCT ID: NCT03268681

Last Updated: 2018-10-18

Basic Information

• Recruitment Status: COMPLETED
• Total Enrollment: 12 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2017-07-26
• Study Completion Date: 2018-07-26

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.

Conditions

Biotin Deficiency; Optic Neuropathy

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: CROSS_SECTIONAL

Eligibility Criteria

Inclusion Criteria

• patient with bilateral optic neuropathy
• symptoms beginning before 50 years old
• diagnosed for more than 1 months
• etiology unknown

Exclusion Criteria

• none

• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Fondation Ophtalmologique Adolphe de Rothschild

NETWORK

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Romain Deschamps, MD

Role: PRINCIPAL_INVESTIGATOR

Fondation OPH A de Rothschild

Locations

Fondation OPH A. de Rothschild

Paris, , France

Countries

France

Other Identifiers

RDS_2017_14

Identifier Type: -

Identifier Source: org_study_id