Cystic FibrosisNCT05599958
Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
An observational study of Cystic Fibrosis, run by Sohag University at 1 site in Egypt.
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. Read more about this study
- Who is it for?
- Ages 2 days to 18 years
- Conditions the study is for
- Cystic Fibrosis
- What is being tested?
- sweat chloride test and genetic testing
- How many people
- 152 participants
- Where
- 1 siteEgypt
- Study dates
- 10 Oct 2022to 2 Oct 2023
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 2 days to 18 years
- All sexes
- Child, Adult
Study population: Pediatric pulmonology clinic
Who may be able to join
- 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.
Who cannot join
- Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the 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.
- Conditions
- Cystic Fibrosis
- Being tested
- sweat chloride test, genetic testing
- Keywords
- sweat chloride test, genetics
- Medical subject headings
- Cystic Fibrosis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
sweat chloride testDiagnostic test
assessing chloride (Cl-) concentration in sweat of the patient
genetic testingGenetic
detection of CFTR mutation
What is being measured
The primary outcome is the main question the study is designed to answer.
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 .
Measured: 6 months
number of patients affected with different genetic mutations causing cystic fibrosis.
detecting the different genetic mutations affecting pediatric patients in Sohag
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Oct 2022
- Study start10 Oct 2022
- Primary completion10 Sep 2023
- Study completion2 Oct 2023
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (5)Papers the sponsor has linked to this study.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- More trials run by Sohag UniversityThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Other
- Time perspective
- Cross-sectional
- Enrolment
- 152 participants (actual)
Sponsor and investigators
- Lead sponsor
- Sohag University
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Lamiaa Kamel Morssi, Sohag University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05599958
- Sponsor's protocol ID
- Soh-Med-22-10-20
- Status last verified
- Oct 2023
- First submitted
- 20 Oct 2022
- Last updated
- 2 Nov 2023
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
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.
PubMed 2475911Al-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.
PubMed 30419605Proesmans 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.
PubMed 27913761Castellani 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.
PubMed 27709245Bell 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, Kashirskaya N, Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O'Neill C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL, Zampoli M, Ratjen F. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27.
PubMed 31570318
Study at a glance
From the registry record, last updated by the sponsor on 2 Nov 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.
- ClinicalTrials.gov ID
- NCT05599958
- Acronym / sponsor ID
- Soh-Med-22-10-20
- Conditions
- Cystic Fibrosis
- Keywords
- sweat chloride test, genetics
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 152 participants (actual)
- Lead sponsor
- Sohag UniversityUniversity, hospital or other
- Study start
- 10 Oct 2022 (actual)
- Primary completion
- 10 Sep 2023 (actual)
- Study completion
- 2 Oct 2023 (actual)
- First posted
- 31 Oct 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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 design
- Observational model
- Other
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 2 days to 18 years
- Sex
- All
- Age groups
- Child, Adult
- Study population
- Pediatric pulmonology clinic
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (1 listed)
- Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| sweat chloride testassessing chloride (Cl-) concentration in sweat of the patient | Diagnostic test | – |
| genetic testingdetection of CFTR mutation | Genetic | – |
Primary outcome
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 .
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
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Nov 2023.
- Background: PubMed 2475911Riordan 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.
- Background: PubMed 30419605Al-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.
- Background: PubMed 27913761Proesmans 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.
- Background: PubMed 27709245Castellani 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.
- Results publication: PubMed 31570318Bell 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, Kashirskaya N, Kerem E, Mathew JL, McKone EF, Naehrlich L, Nasr SZ, Oates GR, O'Neill C, Pypops U, Raraigh KS, Rowe SM, Southern KW, Sivam S, Stephenson AL, Zampoli M, Ratjen F. The future of cystic fibrosis care: a global perspective. Lancet Respir Med. 2020 Jan;8(1):65-124. doi: 10.1016/S2213-2600(19)30337-6. Epub 2019 Sep 27.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Cystic Fibrosis, run by Sohag University at 1 site in Egypt.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 1 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Nov 2023. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Egypt. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
number of patients presented with each presenting symptoms and signs . (time frame: 6 months). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT05599958, which also lists 5 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Nov 2023.