BIOtinidase Test In Optic-Neuropathy (BIOTIN)

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.

Study Overview

• Status: Completed
• Conditions: Optic Neuropathy; Biotin Deficiency

• Study Type: Observational
• Enrollment (Actual): 12

Contacts and Locations

Study Locations

• France
  • Paris, France
    • Fondation OPH A. de Rothschild

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: ADULT; OLDER_ADULT; CHILD
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

Patients with idiopatic bilateral optic neuropathy

Description

Inclusion Criteria:

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

Exclusion Criteria:

• none

Study Plan

How is the study designed?

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
prevalence of biotin deficiency among patients with idiopathic optic neuropathy	measure of biotinidase activity (nkat/l unit)	baseline

Collaborators and Investigators

• Sponsor: Fondation Ophtalmologique Adolphe de Rothschild
• Investigators: Principal Investigator: Romain Deschamps, MD, Fondation OPH A de Rothschild

Study record dates

Study Major Dates

• Study Start (ACTUAL): July 26, 2017
• Primary Completion (ACTUAL): May 30, 2018
• Study Completion (ACTUAL): July 26, 2018

Study Registration Dates

• First Submitted: August 29, 2017
• First Submitted That Met QC Criteria: August 30, 2017
• First Posted (ACTUAL): August 31, 2017

Study Record Updates

• Last Update Posted (ACTUAL): October 18, 2018
• Last Update Submitted That Met QC Criteria: October 17, 2018
• Last Verified: October 1, 2018

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Metabolic Diseases; Nervous System Diseases; Eye Diseases; Genetic Diseases, Inborn; Carbohydrate Metabolism, Inborn Errors; Metabolism, Inborn Errors; Cranial Nerve Diseases; Amino Acid Metabolism, Inborn Errors; Multiple Carboxylase Deficiency; Optic Nerve Diseases; Biotinidase Deficiency
• Other Study ID Numbers: RDS_2017_14

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No