Biotin DeficiencyBIOTINNCT03268681
BIOtinidase Test In Optic-Neuropathy
An observational study of Biotin Deficiency and Optic Neuropathy, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Biotin Deficiency, Optic Neuropathy
- How many people
- 12 participants
- Where
- 1 siteFrance
- Study dates
- 26 Jul 2017to 26 Jul 2018
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients with idiopatic bilateral optic neuropathy
Who may be able to join
- patient with bilateral optic neuropathy
- symptoms beginning before 50 years old
- diagnosed for more than 1 months
- etiology unknown
Who cannot join
- none
Trial locations and contacts
1 site in 1 country.
About this study
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.
- Conditions
- Biotin Deficiency, Optic Neuropathy
- Medical subject headings
- Biotin deficiency, Optic Nerve Diseases
What is being measured
The primary outcome is the main question the study is designed to answer.
prevalence of biotin deficiency among patients with idiopathic optic neuropathy
measure of biotinidase activity (nkat/l unit)
Measured: baseline
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Aug 2017
- Study start26 Jul 2017
- Primary completion30 May 2018
- Study completion26 Jul 2018
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Biotin DeficiencyStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 12 participants (actual)
Sponsor and investigators
- Lead sponsor
- Fondation Ophtalmologique Adolphe de Rothschild
- Sponsor type
- Research network
- Responsible party
- Sponsor
- Investigators
- Romain Deschamps, MD, Principal investigator, Fondation OPH A de Rothschild
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03268681
- Sponsor's protocol ID
- RDS_2017_14
- Acronym
- BIOTIN
- Status last verified
- Oct 2018
- First submitted
- 29 Aug 2017
- Last updated
- 18 Oct 2018
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Oct 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- BIOtinidase Test In Optic-Neuropathy
- ClinicalTrials.gov ID
- NCT03268681
- Acronym / sponsor ID
- BIOTIN / RDS_2017_14
- Conditions
- Biotin Deficiency, Optic Neuropathy
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 12 participants (actual)
- Lead sponsor
- Fondation Ophtalmologique Adolphe de RothschildResearch network
- Study start
- 26 Jul 2017 (actual)
- Primary completion
- 30 May 2018 (actual)
- Study completion
- 26 Jul 2018 (actual)
- First posted
- 31 Aug 2017 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients with idiopatic bilateral optic neuropathy
Key inclusion criteria (4 listed)
- patient with bilateral optic neuropathy
- symptoms beginning before 50 years old
- diagnosed for more than 1 months
- etiology unknown
Key exclusion criteria (1 listed)
- none
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
prevalence of biotin deficiency among patients with idiopathic optic neuropathy
Time frame: baseline
measure of biotinidase activity (nkat/l unit)
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Oct 2018.
- Individual participant dataSharing planned: No
Related trials for Biotin Deficiency
Active, not recruitingObservational study
Early Check: Expanded Screening in Newborns
Spinal Muscular Atrophy, Fragile X Syndrome
RecruitingObservational study
Neonatal Screening of Biotinidase Deficiency: Genotype-phenotype Correlation and Clinical Follow-up
Biotinidase Deficiency
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Romain Deschamps, MD principal investigator
Fondation OPH A de Rothschild
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Biotin Deficiency and Optic Neuropathy, run by Fondation Ophtalmologique Adolphe de Rothschild at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Oct 2018. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
prevalence of biotin deficiency among patients with idiopathic optic neuropathy (time frame: baseline). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Oct 2018.