Ignite Creation Date:
2025-12-24 @ 7:00 PM
Ignite Modification Date:
2025-12-31 @ 3:26 PM
Study NCT ID:
NCT04778657
Status:
RECRUITING
Last Update Posted:
2021-11-03
First Post:
2021-02-26
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'OTHER', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'targetDuration': '15 Years', 'patientRegistry': True}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2021-05-06', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2021-02', 'completionDateStruct': {'date': '2041-03-01', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2021-10-28', 'studyFirstSubmitDate': '2021-02-26', 'studyFirstSubmitQcDate': '2021-02-26', 'lastUpdatePostDateStruct': {'date': '2021-11-03', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2021-03-03', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2041-03-01', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Obtain a description of the clinical and laboratory data of patients at the time of diagnosis of stomatocytosis', 'timeFrame': 'Baseline', 'description': 'Descriptive analysis of clinical and biological data for the diagnosis of stomatocytosis'}], 'secondaryOutcomes': [{'measure': 'Determine the proportion of recurrent genetic mutations and private mutations within our cohort', 'timeFrame': 'Baseline', 'description': 'Number of recurrent genetic mutations and private mutations within our cohort'}, {'measure': 'Establish phenotypes-genotypes relationships', 'timeFrame': 'through study completion, an average of 15years', 'description': 'Specify the phenotypic presentation of each mutation and isolate any correlations genotype-phenotype'}, {'measure': 'Describe the appearance of complications', 'timeFrame': 'through study completion, an average of 15years', 'description': 'Rate of occurrence of complications over time'}, {'measure': 'Describe possible new phenotypic presentations of hereditary stomatocytosis', 'timeFrame': 'through study completion, an average of 15years', 'description': 'Description of the phenotypic presentations of hereditary stomatocytosis'}]}, 'oversightModule': {'oversightHasDmc': False, 'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'keywords': ['rare genetic disease'], 'conditions': ['Stomatocytosis']}, 'descriptionModule': {'briefSummary': 'Hereditary stomatocytosis is a heterogeneous group of rare constitutional diseases of dominant transmission in the vast majority of cases. The data concerning their clinical and biological presentation, and their evolution are few, and come from about thirty clinical cases. The constitution of an exhaustive French cohort of hereditary stomatocytosis will improve the establishment of the diagnosis and the management of patients', 'detailedDescription': 'The patient is prospectively included. The referring hematologist will inform the patient about participation in the cohort, give him the information note and obtain his non-objection agreement to the use of his data for research purposes.\n\nThe data will be collected from the medical file of each patient as part of his usual annual follow-up.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'all patients for whom the diagnosis of hereditary stomatocytosis has been made or confirmed by ektacytometry', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Any patient with a diagnosis of stomatocytosis without age limit\n* Patient affiliated or beneficiary of french Social Security\n* No objection from the patient or legal representative\n\nExclusion Criteria:\n\n* Diagnosis of stomatocytosis excluded by ektacytometry and / or genetics\n* Patient under guardianship, with curators or legal protection'}, 'identificationModule': {'nctId': 'NCT04778657', 'acronym': 'COHSTO', 'briefTitle': 'National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell', 'organization': {'class': 'OTHER', 'fullName': 'Assistance Publique - Hôpitaux de Paris'}, 'officialTitle': 'National Exhaustive Cohort of Hereditary Stomatocytoses and Other Channelopathies Affecting the Red Blood Cell', 'orgStudyIdInfo': {'id': 'APHP210274'}}, 'contactsLocationsModule': {'locations': [{'zip': '94275', 'city': 'Le Kremlin-Bicêtre', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Corinne GUITTON, MD', 'role': 'CONTACT', 'email': 'corinne.guitton@aphp.fr', 'phone': '+33 (0) 1 45 21 32 47'}], 'facility': 'AP-HP, Bicêtre Hospital, Pediatrics - Hematology - Reference center for Sickle cell anemia, Thalassemia and other constitutional diseases of the red blood cell', 'geoPoint': {'lat': 48.81471, 'lon': 2.36073}}], 'centralContacts': [{'name': 'Corinne GUITTON, MD,PhD', 'role': 'CONTACT', 'email': 'corinne.guitton@aphp.fr', 'phone': '01 45 21 32 47'}], 'overallOfficials': [{'name': 'Corinne GUITTON', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'APHP'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'NO'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Assistance Publique - Hôpitaux de Paris', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}