Ignite Creation Date:
2025-12-24 @ 6:40 PM
Ignite Modification Date:
2025-12-30 @ 12:57 AM
Study NCT ID:
NCT05953857
Status:
NOT_YET_RECRUITING
Last Update Posted:
2023-07-20
First Post:
2023-06-19
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Knowing and Treating Kosaki/Penttinen Syndromes
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'C536653', 'term': 'Penttinen-Aula syndrome'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 30}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'NOT_YET_RECRUITING', 'startDateStruct': {'date': '2023-10', 'type': 'ESTIMATED'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2023-07', 'completionDateStruct': {'date': '2048-10', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2023-07-18', 'studyFirstSubmitDate': '2023-06-19', 'studyFirstSubmitQcDate': '2023-07-18', 'lastUpdatePostDateStruct': {'date': '2023-07-20', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2023-07-20', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2024-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': "Symptom's burden", 'timeFrame': 'At various time points according to the type of symptom: from weekly to every 5 years', 'description': 'Symptoms: type, severity, date of appearance, evolution'}], 'secondaryOutcomes': [{'measure': 'Efficacy of TKI', 'timeFrame': 'Through the study completion, an average of 10 years.', 'description': 'Proportion of patients with improvement in quality of life under TKI treatment, expressed as percentages'}, {'measure': 'Safety of TKI', 'timeFrame': 'Through the study completion, an average of 10 years.', 'description': 'Proportion of patients with side effects under TKI treatment, expressed as percentages'}, {'measure': 'Percentage of patients whose follow-up complies with recommendations', 'timeFrame': 'Through the study completion, an average of 10 years.'}, {'measure': 'Percentage of patients whose TKI has been chosen according to cellular studies', 'timeFrame': 'Through the study completion, an average of 10 years.'}]}, 'oversightModule': {'isFdaRegulatedDrug': False, 'isFdaRegulatedDevice': False}, 'conditionsModule': {'conditions': ['Kosaki Overgrowth Syndrome', 'Penttinen Syndrome']}, 'descriptionModule': {'briefSummary': 'Kosaki overgrowth syndrome (KOGS) and Penttinen syndrome (PS) are extremely rare multisystem disorders caused by heterozygous activating variants of the PDGFRB gene. KOGS results in characteristic craniofacial, orthopedic, skin and neurological disorders. PS is a progeroid disease responsible for a prematurely aged appearance. Patients suffer significant morbidity and mortality due to various complications. Tyrosine Kinase Inhibitors (TKIs) targeting PGDFRB appear to be a potential treatment option, as evidenced by a few case reports showing clinical improvement in some patients, with modest and self-resolving side effects. The natural history of these two syndromes remains poorly understood as only case-reports have been published.\n\nTherefore, an international consortium was created in December 2019 by Pr FAIVRE (CHU Dijon Bourgogne \\& ERN ITHACA) to follow treated and untreated patients in a real-life, multicentre, observational study, in order to expand our knowledge of these ultra-rare diseases. In the longer term, we believe that TKIs could bring clinical benefit to KOGS/PS patients.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'maximumAge': '100 Years', 'minimumAge': '0 Years', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'All patients with KOGS or PS due to PDGFRB activating variants', 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Clinical diagnosis of Kosaki or Penttinen syndrome\n* Molecular diagnosis of an activating variant in PDGFRB gene\n* Patient who has been informed and provide a written informed consent\n\nExclusion Criteria:\n\n* Absence of clinical diagnosis of Kosaki or Penttinen syndrome\n* Absence of molecular diagnosis of an activating variant in the PDGFRB gene.\n* Patient who has not been informed and/or did not provide a written informed consent.'}, 'identificationModule': {'nctId': 'NCT05953857', 'acronym': 'IKKoPeS', 'briefTitle': 'Knowing and Treating Kosaki/Penttinen Syndromes', 'organization': {'class': 'OTHER', 'fullName': 'Centre Hospitalier Universitaire Dijon'}, 'officialTitle': '" Knowing & Treating Kosaki/Penttinen Syndromes " International Collaborative Consortium. A Real-life Observational Study on the Natural History of KOGS and PS and on the Efficacy and Safety Profile of TKIs in These Patients.', 'orgStudyIdInfo': {'id': 'OLIVIER-FAIVRE 2023'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Untreated', 'description': 'Not treated with TKI'}, {'label': 'Treated', 'description': 'Treated with TKI'}]}, 'contactsLocationsModule': {'locations': [{'city': 'Dijon', 'country': 'France', 'contacts': [{'name': 'Laurence FAIVRE', 'role': 'CONTACT', 'email': 'laurence.faivre@chu-dijon.fr', 'phone': '0033380295313'}], 'facility': 'CHU Dijon Bourgogne', 'geoPoint': {'lat': 47.31344, 'lon': 5.01391}}], 'centralContacts': [{'name': 'Laurence FAIVRE', 'role': 'CONTACT', 'email': 'laurence.faivre@chu-dijon.fr', 'phone': '0033380295313'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Centre Hospitalier Universitaire Dijon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}