Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.

Cystic Fibrosis Clinical Trial

Official title:

Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT05599958
• Other study ID #: Soh-Med-22-10-20
• Status: Completed
• Start date: October 10, 2022
• Est. completion date: October 2, 2023

Study information

• Verified date: October 2023
• Source: Sohag University
• Contact: n/a
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 152
• Est. completion date: October 2, 2023
• Est. primary completion date: September 10, 2023
• Gender: All
• Age group: 2 Days to 18 Years

Eligibility

Inclusion Criteria:

• Children and adolescents aged 2 days - 18 year.
• patients clinically suspected or diagnosed with cystic fibrosis
• patients diagnosed with cystic fibrosis and attending or referred to the Pediatric pulmonology clinic at Sohag University Hospital.

Exclusion Criteria:

• Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia

Related Conditions & MeSH terms

• Cystic Fibrosis
• Fibrosis

Intervention

Diagnostic Test:
• sweat chloride test
assessing chloride (Cl-) concentration in sweat of the patient

Genetic:
• genetic testing
detection of CFTR mutation

Locations

Country	Name	City	State
Egypt	Sohag University Hospital	Sohag

Sponsors (1)

Lead Sponsor	Collaborator
Sohag University

Country where clinical trial is conducted

Egypt, 

References & Publications (5)

Al-Sadeq D, Abunada T, Dalloul R, Fahad S, Taleb S, Aljassim K, Al Hamed FA, Zayed H. Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review. Respirology. 2019 Feb;24(2):127-136. doi: 10.1111/resp.13437. Epub 2018 Nov 12. — View Citation

Bell SC, Mall MA, Gutierrez H, Macek M, Madge S, Davies JC, Burgel PR, Tullis E, Castanos C, Castellani C, Byrnes CA, Cathcart F, Chotirmall SH, Cosgriff R, Eichler I, Fajac I, Goss CH, Drevinek P, Farrell PM, Gravelle AM, Havermans T, Mayer-Hamblett N, K — View Citation

Castellani C, Assael BM. Cystic fibrosis: a clinical view. Cell Mol Life Sci. 2017 Jan;74(1):129-140. doi: 10.1007/s00018-016-2393-9. Epub 2016 Oct 5. — View Citation

Proesmans M. Best practices in the treatment of early cystic fibrosis lung disease. Ther Adv Respir Dis. 2017 Feb;11(2):97-104. doi: 10.1177/1753465816680573. Epub 2016 Dec 2. — View Citation

Riordan JR, Rommens JM, Kerem B, Alon N, Rozmahel R, Grzelczak Z, Zielenski J, Lok S, Plavsic N, Chou JL, et al. Identification of the cystic fibrosis gene: cloning and characterization of complementary DNA. Science. 1989 Sep 8;245(4922):1066-73. doi: 10.1126/science.2475911. Erratum In: Science 1989 Sep 29;245(4925):1437. — View Citation

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	number of patients presented with each presenting symptoms and signs .	number of patients with each main presenting symptoms of cystic fibrosis as respiratory distress ,dehydration or others .	6 months
Primary	number of patients affected with different genetic mutations causing cystic fibrosis.	detecting the different genetic mutations affecting pediatric patients in Sohag	6 months