NCT03268681

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.

Trial Health

87
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
12

participants targeted

Target at below P25 for all trials

Timeline
Completed

Started Jul 2017

Shorter than P25 for all trials

Geographic Reach
1 country

1 active site

Status
completed

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Start

First participant enrolled

July 26, 2017

Completed
1 month until next milestone

First Submitted

Initial submission to the registry

August 29, 2017

Completed
2 days until next milestone

First Posted

Study publicly available on registry

August 31, 2017

Completed
9 months until next milestone

Primary Completion

Last participant's last visit for primary outcome

May 30, 2018

Completed
2 months until next milestone

Study Completion

Last participant's last visit for all outcomes

July 26, 2018

Completed
Last Updated

October 18, 2018

Status Verified

October 1, 2018

Enrollment Period

10 months

First QC Date

August 29, 2017

Last Update Submit

October 17, 2018

Conditions

Biotin DeficiencyOptic Neuropathy

Outcome Measures

Primary Outcomes (1)

  • prevalence of biotin deficiency among patients with idiopathic optic neuropathy

    measure of biotinidase activity (nkat/l unit)

    baseline

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients with idiopatic bilateral optic neuropathy

You may qualify if:

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

You may not qualify if:

  • none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

Fondation OPH A. de Rothschild

Paris, France

Location

MeSH Terms

Conditions

Biotin deficiencyOptic Nerve Diseases

Condition Hierarchy (Ancestors)

Cranial Nerve DiseasesNervous System DiseasesEye Diseases

Study Officials

  • Romain Deschamps, MD

    Fondation OPH A de Rothschild

    PRINCIPAL INVESTIGATOR

Study Design

Study Type
observational
Observational Model
CASE ONLY
Time Perspective
CROSS SECTIONAL
Sponsor Type
NETWORK
Responsible Party
SPONSOR

Study Record Dates

First Submitted

August 29, 2017

First Posted

August 31, 2017

Study Start

July 26, 2017

Primary Completion

May 30, 2018

Study Completion

July 26, 2018

Last Updated

October 18, 2018

Record last verified: 2018-10

Data Sharing

IPD Sharing
Will not share

Locations

FR(1)