BIOtinidase Test In Optic-Neuropathy

Optic Neuropathy Clinical Trial

— BIOTIN  

Official title:

BIOtinidase Test In Optic-Neuropathy

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT03268681
• Other study ID #: RDS_2017_14
• Status: Completed
• Start date: July 26, 2017
• Est. completion date: July 26, 2018

Study information

• Verified date: October 2018
• Source: Fondation Ophtalmologique Adolphe de Rothschild
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 12
• Est. completion date: July 26, 2018
• Est. primary completion date: May 30, 2018
• Accepts healthy volunteers: No
• Gender: All
• Age group: N/A and older

Eligibility

Inclusion Criteria:

• patient with bilateral optic neuropathy

• symptoms beginning before 50 years old

• diagnosed for more than 1 months

• etiology unknown

Exclusion Criteria:

Related Conditions & MeSH terms

• Biotin Deficiency
• Biotinidase Deficiency
• Optic Nerve Diseases
• Optic Neuropathy

Locations

Country	Name	City	State
France	Fondation OPH A. de Rothschild	Paris

Sponsors (1)

Lead Sponsor	Collaborator
Fondation Ophtalmologique Adolphe de Rothschild

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	prevalence of biotin deficiency among patients with idiopathic optic neuropathy	measure of biotinidase activity (nkat/l unit)	baseline