An observational study in The Glutathione Synthetase Deficiency, sponsored by University Hospital, Strasbourg, France. Status unknown at 1 site in France. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2018-01-10.
Sponsored by University Hospital, Strasbourg, France · Observational
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.
29 studies on the registry are indexed under Amino Acid Metabolism, Inborn Errors; 8 are open to participants now.
This study's planned enrollment of 100 is above the median of 60 across 11 observational studies indexed under Amino Acid Metabolism, Inborn Errors.
Browse Amino Acid Metabolism, Inborn Errors studies →University Hospital, Strasbourg, France is the lead sponsor of 966 studies on the registry; 342 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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:
Immunologically determining human acid glutathione S-transferase in a human assay sample
Time frame: 1 hour after hospitalization
Plan to share: No
No publications or documents are linked to this record.
This study is status unknown, as verified in Jan 2016. You cannot join it, but the record below documents what was studied.
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Amino Acid Metabolism, Inborn Errors→
University Hospital, Strasbourg, France