Review of French Cases of Glutathione Synthetase Deficiency

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT02830867

Enrollment

100

Registered

2016-07-13

Start date

2016-07-31

Completion date

2018-10-31

Last updated

2018-01-10

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

The Glutathione Synthetase Deficiency

Keywords

glutathione, glutathione synthetase deficiency, autosomal inheritance, recessive

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.

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

RETROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

18 Years to No maximum

Healthy volunteers

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

Design outcomes

Primary

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

Countries

France

Contacts

Primary ContactDidier EYER, MD

didier.eyer@chru-strasbourg.fr33 (0)3.88.12.81.18

Backup ContactClaire BANSEPT

claire.bansept@chru-strasbourg.fr33 (0)3.88.12.77.57

Outcome results