An observational study in Biotin Deficiency and Optic Neuropathy, sponsored by Fondation Ophtalmologique Adolphe de Rothschild. Completed at 1 site in France. Per ClinicalTrials.gov, last updated 2018-10-18.
Sponsored by Fondation Ophtalmologique Adolphe de Rothschild · Observational
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.
61 studies on the registry are indexed under Optic Nerve Diseases; 22 are open to participants now.
This study's enrollment of 12 is below the median of 56 across 21 observational studies indexed under Optic Nerve Diseases.
Browse Optic Nerve Diseases studies →Fondation Ophtalmologique Adolphe de Rothschild is the lead sponsor of 316 studies on the registry; 78 are open to participants now.
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Patients with idiopatic bilateral optic neuropathy
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Exclusion Criteria:
prevalence of biotin deficiency among patients with idiopathic optic neuropathy
measure of biotinidase activity (nkat/l unit)
Time frame: baseline
Plan to share: No
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Ran from Jul 2017 to primary completion in May 2018, 10 months.
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This study is completed, as verified in Oct 2018. You cannot join it, but the record below documents what was studied.
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