Chronic Granulomatous Disease Study in China

Shanghai Jiao Tong University

Status: Unknown

Conditions: Granulomatous Disease, Chronic

Study type: Observational

Funder types: Other

Identifiers

NCT02231996

CGD-20140829

Details and patient eligibility

About

CGD is a rare inherited primary immunodeficiency which is caused by the defect in one of the subunits of NADPH oxidase complex.We tend to collect and analyze Chinese CGD patients who are diagnosed in hospitals affiliated to Shanghai Jiao Tong University School of Medicine, including clinical feature, laboratory data and genetic information. we aim to find out clinical, distribution, genetic characteristic of CGD in Chinese population, etc., thus further improving the level of diagnosis and treatment for CGD.

Enrollment: 50 estimated patients

Sex: All

Ages: 1 day to 18 years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• x-linked and AR-linked Chronic Granulomatous Disease
• history of life-threatening severe infections
• A functional assay demonstrating abnormal NADPH oxidase function or clinical history consistent with CGD

Exclusion criteria

• Presence of other primary immunodeficiency syndromes that do not meet the clinical and laboratory criteria for CGD.

Trial design

50 participants in 1 patient group

gene mutation