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:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'submissionTracking': {'submissionInfos': [{'resetDate': '2024-04-19', 'releaseDate': '2023-11-06'}], 'estimatedResultsFirstSubmitDate': '2023-11-06'}}, 'conditionBrowseModule': {'meshes': [{'id': 'D003550', 'term': 'Cystic Fibrosis'}], 'ancestors': [{'id': 'D010182', 'term': 'Pancreatic Diseases'}, {'id': 'D004066', 'term': 'Digestive System Diseases'}, {'id': 'D008171', 'term': 'Lung Diseases'}, {'id': 'D012140', 'term': 'Respiratory Tract Diseases'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D007232', 'term': 'Infant, Newborn, Diseases'}]}, 'interventionBrowseModule': {'meshes': [{'id': 'D005820', 'term': 'Genetic Testing'}], 'ancestors': [{'id': 'D019411', 'term': 'Clinical Laboratory Techniques'}, {'id': 'D019937', 'term': 'Diagnostic Techniques and Procedures'}, {'id': 'D003933', 'term': 'Diagnosis'}, {'id': 'D008919', 'term': 'Investigative Techniques'}, {'id': 'D005821', 'term': 'Genetic Techniques'}, {'id': 'D033142', 'term': 'Genetic Services'}, {'id': 'D006296', 'term': 'Health Services'}, {'id': 'D005159', 'term': 'Health Care Facilities Workforce and Services'}, {'id': 'D003954', 'term': 'Diagnostic Services'}, {'id': 'D011314', 'term': 'Preventive Health Services'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'blood sample for genetic testing for CFTR gene'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'OTHER'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 152}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2022-10-10', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-10', 'completionDateStruct': {'date': '2023-10-02', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2023-10-31', 'studyFirstSubmitDate': '2022-10-20', 'studyFirstSubmitQcDate': '2022-10-25', 'lastUpdatePostDateStruct': {'date': '2023-11-02', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-10-31', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2023-09-10', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'number of patients presented with each presenting symptoms and signs .', 'timeFrame': '6 months', 'description': 'number of patients with each main presenting symptoms of cystic fibrosis as respiratory distress ,dehydration or others .'}, {'measure': 'number of patients affected with different genetic mutations causing cystic fibrosis.', 'timeFrame': '6 months', 'description': 'detecting the different genetic mutations affecting pediatric patients in Sohag'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['sweat chloride test', 'genetics'], 'conditions': ['Cystic Fibrosis']}, 'referencesModule': {'references': [{'pmid': '2475911', 'type': 'BACKGROUND', '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.'}, {'pmid': '30419605', 'type': 'BACKGROUND', 'citation': '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.'}, {'pmid': '27913761', 'type': 'BACKGROUND', '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.'}, {'pmid': '27709245', 'type': 'BACKGROUND', '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.'}, {'pmid': '31570318', 'type': 'RESULT', '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, 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."}]}, 'descriptionModule': {'briefSummary': '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.', 'detailedDescription': "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."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT'], 'maximumAge': '18 Years', 'minimumAge': '2 Days', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Pediatric pulmonology clinic', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Children and adolescents aged 2 days - 18 year.\n* patients clinically suspected or diagnosed with cystic fibrosis\n* patients diagnosed with cystic fibrosis and attending or referred to the Pediatric pulmonology clinic at Sohag University Hospital.\n\nExclusion Criteria:\n\n* Patient with cystic fibrosis like symptoms with another confirmed diagnosis ex. primary ciliary dyskinesia'}, 'identificationModule': {'nctId': 'NCT05599958', 'briefTitle': 'Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.', 'organization': {'class': 'OTHER', 'fullName': 'Sohag University'}, 'officialTitle': 'Clinical and Genetic Profile of Pediatric Patients With Cystic Fibrosis in Sohag.', 'orgStudyIdInfo': {'id': 'Soh-Med-22-10-20'}}, 'armsInterventionsModule': {'interventions': [{'name': 'sweat chloride test', 'type': 'DIAGNOSTIC_TEST', 'description': 'assessing chloride (Cl-) concentration in sweat of the patient'}, {'name': 'genetic testing', 'type': 'GENETIC', 'description': 'detection of CFTR mutation'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Sohag', 'country': 'Egypt', 'facility': 'Sohag University Hospital', 'geoPoint': {'lat': 26.55695, 'lon': 31.69478}}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Sohag University', 'class': 'OTHER'}, 'responsibleParty': {'type': 'PRINCIPAL_INVESTIGATOR', 'investigatorTitle': 'resident doctor', 'investigatorFullName': 'Lamiaa Kamel Morssi', 'investigatorAffiliation': 'Sohag University'}}}, 'annotationSection': {'annotationModule': {'unpostedAnnotation': {'unpostedEvents': [{'date': '2023-11-06', 'type': 'RELEASE'}, {'date': '2024-04-19', 'type': 'RESET'}], 'unpostedResponsibleParty': 'Lamiaa Kamel Morssi, resident doctor, Sohag University'}}}}