Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
NCT05599958 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 152
Last updated 2023-11-02
Summary
Cystic fibrosis (CF) is an autosomal recessive genetic disorder caused by mutations in the gene encoding CF transmembrane conductance regulator (CFTR), which is located at 7q31.2 and encodes 1480 amino acids. CFTR protein is responsible for regulating the transport of electrolytes and chloride across epithelial and mucus-producing cell membranes.
Conditions
Interventions
- DIAGNOSTIC_TEST
-
sweat chloride test
assessing chloride (Cl-) concentration in sweat of the patient
- GENETIC
-
genetic testing
detection of CFTR mutation
Sponsors & Collaborators
-
Sohag University
lead OTHER
Eligibility
- Min Age
- 2 Days
- Max Age
- 18 Years
- Sex
- ALL
- Healthy Volunteers
- No
Timeline & Regulatory
- Start
- 2022-10-10
- Primary Completion
- 2023-09-10
- Completion
- 2023-10-02
Countries
- Egypt
Study Locations
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