BIOtinidase Test In Optic-Neuropathy
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Les sponsors
Fondation Ophtalmologique Adolphe de Rothschild
ESSAI CLINIQUE: NCT03268681
BioSeek: nct03268681
Mots clés
Abstrait
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.
Rendez-vous
Dernière vérification: | 09/30/2018 |
Première soumission: | 08/28/2017 |
Inscription estimée soumise: | 08/29/2017 |
Première publication: | 08/30/2017 |
Dernière mise à jour soumise: | 10/16/2018 |
Dernière mise à jour publiée: | 10/17/2018 |
Date de début réelle de l'étude: | 07/25/2017 |
Date d'achèvement primaire estimée: | 05/29/2018 |
Date estimée d'achèvement de l'étude: | 07/25/2018 |
Condition ou maladie
Biotin Deficiency
Optic Neuropathy
Phase
-
Critère d'éligibilité
Sexes éligibles à l'étude | All |
Méthode d'échantillonnage | Non-Probability Sample |
Accepte les bénévoles en santé | Oui |
Critères | Inclusion Criteria: - patient with bilateral optic neuropathy - symptoms beginning before 50 years old - diagnosed for more than 1 months - etiology unknown Exclusion Criteria: - none |
Résultat
Mesures des résultats primaires
1. prevalence of biotin deficiency among patients with idiopathic optic neuropathy [baseline]
measure of biotinidase activity (nkat/l unit)