Ignite Creation Date:
2025-12-25 @ 4:19 AM
Ignite Modification Date:
2025-12-26 @ 3:20 AM
Study NCT ID:
NCT05564520
Status:
RECRUITING
Last Update Posted:
2025-05-02
First Post:
2022-09-27
Is NOT Gene Therapy:
False
Has Adverse Events:
False
Brief Title:
International Multicenter Study on Lipin-1 Deficiency
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D012206', 'term': 'Rhabdomyolysis'}], 'ancestors': [{'id': 'D009135', 'term': 'Muscular Diseases'}, {'id': 'D009140', 'term': 'Musculoskeletal Diseases'}]}}, 'protocolSection': {'designModule': {'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'CROSS_SECTIONAL', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 150}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'RECRUITING', 'startDateStruct': {'date': '2023-11-24', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2025-04', 'completionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2025-04-29', 'studyFirstSubmitDate': '2022-09-27', 'studyFirstSubmitQcDate': '2022-09-29', 'lastUpdatePostDateStruct': {'date': '2025-05-02', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2022-10-03', 'type': 'ACTUAL'}, 'primaryCompletionDateStruct': {'date': '2026-12-31', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Evaluation of survival in patients with Lipin-1 deficiency', 'timeFrame': 'According to routine care', 'description': 'Patient survival as assessed by long-term follow-up'}], 'secondaryOutcomes': [{'measure': 'Evaluation of cardiac function in patients with Lipin-1 deficiency', 'timeFrame': 'According to routine care', 'description': 'Cardiac function, assessed by cardiographic ultrasound'}, {'measure': 'Comparison of the effectiveness of different current treatments in patients with Lipin-1 deficiency', 'timeFrame': 'According to routine care', 'description': 'Comparison of the number of severe rhabdomyolysis and biological assessment (CPK measurement performed as part of care) in patients'}, {'measure': 'Evaluation of the quality of life of patients with Lipin-1 deficiency', 'timeFrame': 'According to routine care', 'description': 'Quality of life, assessed by standardized questionnaires'}, {'measure': 'Evaluation of the tolerance of treatments in patients with Lipin-1 deficiency.', 'timeFrame': 'According to routine care', 'description': 'Treatment side effects, assessed by abdominal pain, skin allergy and other adverse effects'}, {'measure': 'Evaluation the fatigability of patients with Lipin-1 deficiency', 'timeFrame': 'According to routine care', 'description': 'Exercise capacity, assessed by walking tests'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['Inherited Metabolic Diseases', 'enzymatic deficiency', 'rhabdomyolysis'], 'conditions': ['Lipin-1 Deficiency']}, 'descriptionModule': {'briefSummary': 'LIPIN1 is an international registry that allows the collection of data on the follow-up, management and treatment of patients with Lipin-1 deficiency.', 'detailedDescription': 'This study evaluates survival, cardiac function, quality of life, fatigability, treatment tolerance and comparison of the efficacy of different current treatments in patients with Lipin-1 deficiency.'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '12 Months', 'samplingMethod': 'NON_PROBABILITY_SAMPLE', 'studyPopulation': 'Patient with lipin1 deficit with two mutations on the LIPIN1 gene and having undergone acute rhabdomyolysis, 50 to 150 patients', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\nPatient at least 12 months with Lipin1 deficiency confirmed by molecular biology (two causal mutations in the LPIN1 gene)\n\nExclusion Criteria:\n\nOpposition of the patient or his parents to participate to the study'}, 'identificationModule': {'nctId': 'NCT05564520', 'acronym': 'LIPIN1', 'briefTitle': 'International Multicenter Study on Lipin-1 Deficiency', 'organization': {'class': 'OTHER', 'fullName': 'Imagine Institute'}, 'officialTitle': 'Etude Multicentrique Internationale Sur le déficit en Lipin-1', 'orgStudyIdInfo': {'id': 'HJ-23-LIPIN1'}}, 'contactsLocationsModule': {'locations': [{'zip': '75015', 'city': 'Paris', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Pascale De Lonlay, Pr', 'role': 'CONTACT'}, {'name': 'Caroline Tuchmann-Durand, Pharm D', 'role': 'CONTACT', 'email': 'caroline.tuchmann-durand@institutimagine.org', 'phone': '+ 33 (0)1 71 19 60 18'}], 'facility': 'Necker - Enfants Malades Hospital', 'geoPoint': {'lat': 48.85341, 'lon': 2.3488}}], 'centralContacts': [{'name': 'Pascale De Lonlay, Pr', 'role': 'CONTACT', 'email': 'pascale.delonlay@aphp.fr', 'phone': '+33 (0)1 44 49 40 23'}, {'name': 'Hortense DE CALBIAC, Ph.D.', 'role': 'CONTACT', 'email': 'hortense.de-calbiac@institutimagine.org'}], 'overallOfficials': [{'name': 'Pascale De Lonlay, Pr', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Necker Hospital'}, {'name': 'Hortense De Calbiac, Ph.D.', 'role': 'STUDY_CHAIR', 'affiliation': 'Institut Imagine'}, {'name': 'Caroline Tuchmann-Durand, Pharm D', 'role': 'STUDY_CHAIR', 'affiliation': 'Institut Imagine'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Imagine Institute', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}