Review of French Cases of Glutathione Synthetase Deficiency

January 8, 2018 updated by: University Hospital, Strasbourg, France
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 Overview

Status

Unknown

Conditions

Study Type

Observational

Enrollment (Anticipated)

100

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • France
      • Strasbourg, France, 67091
        • Recruiting
        • Service D'Urgences Medicales Pediatriques
        • Contact:
        • Contact:
        • Principal Investigator:
          • Didier EYER, MD
        • Sub-Investigator:
          • Claire BANSEPT, MD

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

18 years and older (Adult, Older Adult)

Accepts Healthy Volunteers

No

Genders Eligible for Study

All

Sampling Method

Probability Sample

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

Description

Inclusion criteria:

  • 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

Exclusion criteria:

  • No formal proof of glutathione synthetase deficiency

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Observational Models: Cohort
  • Time Perspectives: Retrospective

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Time Frame
Immunologically determining human acid glutathione S-transferase in a human assay sample
Time Frame: 1 hour after hospitalization
1 hour after hospitalization

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University Hospital, Strasbourg, France

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

July 1, 2016

Primary Completion (Anticipated)

October 1, 2018

Study Completion (Anticipated)

October 1, 2018

Study Registration Dates

First Submitted

June 17, 2016

First Submitted That Met QC Criteria

July 8, 2016

First Posted (Estimate)

July 13, 2016

Study Record Updates

Last Update Posted (Actual)

January 10, 2018

Last Update Submitted That Met QC Criteria

January 8, 2018

Last Verified

January 1, 2016

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 6245

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

No

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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