BIOtinidase Test In Optic-Neuropathy (BIOTIN)
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|ClinicalTrials.gov Identifier: NCT03268681|
Recruitment Status : Completed
First Posted : August 31, 2017
Last Update Posted : October 18, 2018
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|
|Biotin Deficiency Optic Neuropathy|
|Study Type :||Observational|
|Actual Enrollment :||12 participants|
|Official Title:||BIOtinidase Test In Optic-Neuropathy|
|Actual Study Start Date :||July 26, 2017|
|Actual Primary Completion Date :||May 30, 2018|
|Actual Study Completion Date :||July 26, 2018|
- prevalence of biotin deficiency among patients with idiopathic optic neuropathy [ Time Frame: baseline ]measure of biotinidase activity (nkat/l unit)
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT03268681
|Fondation OPH A. de Rothschild|
|Principal Investigator:||Romain Deschamps, MD||Fondation OPH A de Rothschild|