Ignite Creation Date:
2025-12-25 @ 12:04 AM
Ignite Modification Date:
2025-12-28 @ 10:38 PM
Study NCT ID:
NCT05599958
Status:
COMPLETED
Last Update Posted:
2023-11-02
First Post:
2022-10-20
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
Sponsor:
Sohag University
Organization:
Study Overview
Official Title:
Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
Status:
COMPLETED
Status Verified Date:
2023-10
Last Known Status:
None
Delayed Posting:
No
If Stopped, Why?:
Not Stopped
Has Expanded Access:
False
If Expanded Access, NCT#:
N/A
Has Expanded Access, NCT# Status:
N/A
Acronym:
None
Brief 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.
Detailed Description:
The discovery of the CFTR gene in the late 1980s triggered a surge of basic research that enhanced understanding of the pathophysiology and the genotype-phenotype relationships of this clinically variable disease of cystic fibrosis. More than 2000 variants of CFTR gene have been reported, and they are grouped to six classes depending on the pathophysiology of the CFTR protein ,The most common genetic defect reported in CF is the delta F508 mutation, Moreover, the degree of CF severity depends on the type of mutation, which typically affects the function and quantity of CFTR channels. When the CFTR protein is mutated, chloride ions accumulate in mucus-producing cells, resulting in a thick, sticky mucus that obstructs various pathways and hinders pulmonary, digestive, exocrine and male reproductive functions. Furthermore, mucus buildup increases a patient's susceptibility to airway obstruction, bacterial lung infection, pancreatic insufficiency, malabsorption and infertility. CF is characterized by significant clinical heterogeneity.
Study Oversight
Has Oversight DMC:
None
Is a FDA Regulated Drug?:
False
Is a FDA Regulated Device?:
False
Is an Unapproved Device?:
None
Is a PPSD?:
None
Is a US Export?:
None
Is an FDA AA801 Violation?: