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

October 31, 2023 updated by: Lamiaa Kamel Morssi, Sohag University

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.

Study Overview

Status

Completed

Conditions

Cystic Fibrosis

Intervention / Treatment

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 Type

Observational

Enrollment (Actual)

152

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Locations

Egypt
- - Sohag, Egypt
    - Sohag university hospital

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

2 days to 18 years (Child, Adult)

Accepts Healthy Volunteers

N/A

Sampling Method

Non-Probability Sample

Study Population

Pediatric pulmonology clinic

Description

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

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: Case-Only
Time Perspectives: Other

What is the study measuring?

Primary Outcome Measures

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sohag University

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 10, 2022

Primary Completion (Actual)

September 10, 2023

Study Completion (Actual)

October 2, 2023

Study Registration Dates

First Submitted

October 20, 2022

First Submitted That Met QC Criteria

October 25, 2022

First Posted (Actual)

October 31, 2022

Study Record Updates

Last Update Posted (Actual)

November 2, 2023

Last Update Submitted That Met QC Criteria

October 31, 2023

Last Verified

October 1, 2023

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

Soh-Med-22-10-20

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

UNDECIDED

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

Studies a U.S. FDA-regulated device product

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.