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Trial record 12 of 227 for:    "citrullinemia" OR "Amino Acid Metabolism, Inborn Errors"

Review of French Cases of Glutathione Synthetase Deficiency

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ClinicalTrials.gov Identifier: NCT02830867
Recruitment Status : Unknown
Verified January 2016 by University Hospital, Strasbourg, France.
Recruitment status was:  Recruiting
First Posted : July 13, 2016
Last Update Posted : January 10, 2018
Sponsor:
Information provided by (Responsible Party):
University Hospital, Strasbourg, France

Brief 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.

Condition or disease
The Glutathione Synthetase Deficiency

Study Type : Observational
Estimated Enrollment : 100 participants
Observational Model: Cohort
Time Perspective: Retrospective
Actual Study Start Date : July 2016
Estimated Primary Completion Date : October 2018
Estimated Study Completion Date : October 2018





Primary Outcome Measures :
  1. Immunologically determining human acid glutathione S-transferase in a human assay sample [ Time Frame: 1 hour after hospitalization ]


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Ages Eligible for Study:   18 Years and older   (Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
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
Criteria

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

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 ClinicalTrials.gov identifier (NCT number): NCT02830867


Contacts
Contact: Didier EYER, MD 33 (0)3.88.12.81.18 didier.eyer@chru-strasbourg.fr
Contact: Claire BANSEPT 33 (0)3.88.12.77.57 claire.bansept@chru-strasbourg.fr

Locations
France
Service D'Urgences Medicales Pediatriques Recruiting
Strasbourg, France, 67091
Contact: Didier EYER, MD       didier.eyer@chru-strasbourg.fr   
Contact: Claire BANSEPT, MD       cbansept@hotmail.com   
Principal Investigator: Didier EYER, MD         
Sub-Investigator: Claire BANSEPT, MD         
Sponsors and Collaborators
University Hospital, Strasbourg, France

Responsible Party: University Hospital, Strasbourg, France
ClinicalTrials.gov Identifier: NCT02830867     History of Changes
Other Study ID Numbers: 6245
First Posted: July 13, 2016    Key Record Dates
Last Update Posted: January 10, 2018
Last Verified: January 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No

Keywords provided by University Hospital, Strasbourg, France:
glutathione
glutathione synthetase deficiency
autosomal inheritance
recessive

Additional relevant MeSH terms:
Amino Acid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Genetic Diseases, Inborn
Metabolic Diseases