BIOtinidase Test In Optic-Neuropathy
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スポンサー
Fondation Ophtalmologique Adolphe de Rothschild
臨床試験: NCT03268681
BioSeek: nct03268681
キーワード
概要
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.
日付
最終確認済み: | 09/30/2018 |
最初に提出された: | 08/28/2017 |
提出された推定登録数: | 08/29/2017 |
最初の投稿: | 08/30/2017 |
最終更新が送信されました: | 10/16/2018 |
最終更新日: | 10/17/2018 |
実際の研究開始日: | 07/25/2017 |
一次完了予定日: | 05/29/2018 |
研究完了予定日: | 07/25/2018 |
状態または病気
Biotin Deficiency
Optic Neuropathy
段階
-
適格基準
研究に適格な性別 | All |
サンプリング方法 | Non-Probability Sample |
健康なボランティアを受け入れる | はい |
基準 | Inclusion Criteria: - patient with bilateral optic neuropathy - symptoms beginning before 50 years old - diagnosed for more than 1 months - etiology unknown Exclusion Criteria: - none |
結果
主な結果の測定
1. prevalence of biotin deficiency among patients with idiopathic optic neuropathy [baseline]
measure of biotinidase activity (nkat/l unit)