The Glutathione Synthetase DeficiencyNCT02830867
Review of French Cases of Glutathione Synthetase Deficiency
An observational study of The Glutathione Synthetase Deficiency, run by University Hospital, Strasbourg, France at 1 site in France.
Trial summary
The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- The Glutathione Synthetase Deficiency
- How many people
- 100 participants
- Where
- 1 siteFrance
- Study dates
- Jul 2016to Oct 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene
Who may be able to join
- All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene
Who cannot join
- No formal proof of glutathione synthetase deficiency
Trial locations and contacts
1 site in 1 country.
France1 site, 1 recruiting
- Recruiting
Service D'Urgences Medicales Pediatriques
Strasbourg, 67091
Didier EYER, MD, didier.eyer@chru-strasbourg.fr
Claire BANSEPT, MD, cbansept@hotmail.com
About this study
The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described.
- Conditions
- The Glutathione Synthetase Deficiency
- Keywords
- glutathione, glutathione synthetase deficiency, autosomal inheritance, recessive
- Medical subject headings
- Glutathione synthetase deficiency
What is being measured
The primary outcome is the main question the study is designed to answer.
Immunologically determining human acid glutathione S-transferase in a human assay sample
Measured: 1 hour after hospitalization
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Jul 2016 (estimated)
- Study startJul 2016
- Primary completionOct 2018 (estimated)
- Study completionOct 2018 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for The Glutathione Synthetase DeficiencyStudies of the same condition, open and under way.
- More trials run by University Hospital, Strasbourg, FranceThe sponsor's other registered studies.
- 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
- Cohort
- Time perspective
- Retrospective
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Strasbourg, France
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02830867
- Sponsor's protocol ID
- 6245
- Status last verified
- Jan 2016
- First submitted
- 17 Jun 2016
- Last updated
- 10 Jan 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 10 Jan 2018. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Review of French Cases of Glutathione Synthetase Deficiency
- ClinicalTrials.gov ID
- NCT02830867
- Acronym / sponsor ID
- 6245
- Conditions
- The Glutathione Synthetase Deficiency
- Keywords
- glutathione, glutathione synthetase deficiency, autosomal inheritance, recessive
- Study type
- Observational
- Recruitment status
- Unknown status
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- University Hospital, Strasbourg, FranceUniversity, hospital or other
- Study start
- Jul 2016 (actual)
- Primary completion
- Oct 2018 (estimated)
- Study completion
- Oct 2018 (estimated)
- First posted
- 13 Jul 2016 (estimated)
- 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.
The glutathione synthetase deficiency, inborn error of metabolism of autosomal recessive inheritance, is a rare disease (70 patients described in the world). The outcome of these patients and potential complications of this disease are not, to date, yet all known and described.
Study design
- Observational model
- Cohort
- Time perspective
- Retrospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene
Key inclusion criteria (1 listed)
- All patients followed in the French hospital centers the diagnosis of glutathione synthetase deficiency has been proven by assay of residual enzyme activity or identifying a mutation of the glutathione synthetase gene
Key exclusion criteria (1 listed)
- No formal proof of glutathione synthetase deficiency
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
Immunologically determining human acid glutathione S-transferase in a human assay sample
Time frame: 1 hour after hospitalization
Results and safety
Results are not available in the source record.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 10 Jan 2018.
- Individual participant dataSharing planned: No
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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.
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 The Glutathione Synthetase Deficiency, run by University Hospital, Strasbourg, France 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 1 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: status not confirmed, as of the sponsor's last update on 10 Jan 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?
Results are not available in the source record.
How can a doctor refer a patient or contact the research team?
Contact Didier EYER, MD (33 (0)3.88.12.81.18, didier.eyer@chru-strasbourg.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Immunologically determining human acid glutathione S-transferase in a human assay sample (time frame: 1 hour after hospitalization). 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 10 Jan 2018.