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BIOtinidase Test In Optic-Neuropathy (BIOTIN)

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT03268681
Recruitment Status : Completed
First Posted : August 31, 2017
Last Update Posted : October 18, 2018
Information provided by (Responsible Party):
Fondation Ophtalmologique Adolphe de Rothschild

Brief 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.

Condition or disease
Biotin Deficiency Optic Neuropathy

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Study Type : Observational
Actual Enrollment : 12 participants
Observational Model: Case-Only
Time Perspective: Cross-Sectional
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

Primary Outcome Measures :
  1. prevalence of biotin deficiency among patients with idiopathic optic neuropathy [ Time Frame: baseline ]
    measure of biotinidase activity (nkat/l unit)

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Ages Eligible for Study:   Child, Adult, Older Adult
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Patients with idiopatic bilateral optic neuropathy

Inclusion Criteria:

  • patient with bilateral optic neuropathy
  • symptoms beginning before 50 years old
  • diagnosed for more than 1 months
  • etiology unknown

Exclusion Criteria:

  • none

Information from the National Library of Medicine

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 identifier (NCT number): NCT03268681

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Fondation OPH A. de Rothschild
Paris, France
Sponsors and Collaborators
Fondation Ophtalmologique Adolphe de Rothschild
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Principal Investigator: Romain Deschamps, MD Fondation OPH A de Rothschild
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Responsible Party: Fondation Ophtalmologique Adolphe de Rothschild Identifier: NCT03268681    
Other Study ID Numbers: RDS_2017_14
First Posted: August 31, 2017    Key Record Dates
Last Update Posted: October 18, 2018
Last Verified: October 2018
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Optic Nerve Diseases
Biotinidase Deficiency
Nervous System Diseases
Cranial Nerve Diseases
Eye Diseases
Multiple Carboxylase Deficiency
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Carbohydrate Metabolism, Inborn Errors
Metabolic Diseases