Ignite Creation Date:
2025-12-24 @ 5:25 PM
Ignite Modification Date:
2025-12-29 @ 12:41 AM
Study NCT ID:
NCT02851550
Status:
UNKNOWN
Last Update Posted:
2016-08-01
First Post:
2016-07-28
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24'}, 'conditionBrowseModule': {'meshes': [{'id': 'D015217', 'term': 'Cholesterol Ester Storage Disease'}], 'ancestors': [{'id': 'D008064', 'term': 'Lipidoses'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITHOUT_DNA', 'description': 'Few drops of blood absorbed onto blotting paper for enzymatic analysis'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ESTIMATED', 'count': 100}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'UNKNOWN', 'lastKnownStatus': 'RECRUITING', 'startDateStruct': {'date': '2015-12'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-07', 'completionDateStruct': {'date': '2018-06', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2016-07-29', 'studyFirstSubmitDate': '2016-07-28', 'studyFirstSubmitQcDate': '2016-07-29', 'lastUpdatePostDateStruct': {'date': '2016-08-01', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2016-08-01', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-12', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Prevalence of Lysosomal Acid Lipase deficiency in liver post-transplant patients', 'timeFrame': 'During the routine visit (Day 1)', 'description': 'Assessment of the prevalence of Lysosomal Acid Lipase deficiency in liver post-transplant patients'}]}, 'conditionsModule': {'keywords': ['liver', 'transplant', 'Lysosomal Acid Lipase'], 'conditions': ['Liver Post-transplant Patients']}, 'descriptionModule': {'briefSummary': 'Lysosomal Acid Lipase (LAL) deficiency is a rare, autosomal recessive storage disease linked to decrease enzymatic activity of LAL, responsible for intracellular accumulation of cholesterol esters and triglycerides.\n\nThe accumulation of lipid is in hepatocytes, Kupffer cells and macrophages leading to a fatty liver, hepatic fibrosis that can evolve up to cirrhosis.\n\nLAL deficiency is responsible for significant morbidity and early mortality in children, adolescents and adults in connection with a multi visceral disease reaching the liver, gastrointestinal tract and the vascular endothelium. The disease is caused by homozygous or heterozygous mutations in the gene (LIPA chromosome 10q23.2-23.3) which is responsible for the synthesis of the LAL.\n\nThe disease can be diagnosed by enzymatic analysis using few drops of blood absorbed onto blotting paper.\n\nPatients with this deficiency LAL, have no or reduced activity of this enzyme. Because of its rarity, the deficit in LAL is under diagnosed or is diagnosed in patients with liver biological disturbances and / or lipid profile disturbances, steatohepatitis-hepatitis (NASH), the steatosis (NAFLD), the cryptogenic cirrhosis or Wilson disease.\n\nInclusion period of 12 to 18 months (100 patients).'}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['ADULT', 'OLDER_ADULT'], 'minimumAge': '18 Years', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'The Assessment of the prevalence of Lysosomal Acid Lipase deficiency were performed from few blood drops absorbed onto blotting paper during a routine visit in liver post-transplant patients Patients will be included after liver transplantation. The enzymatic analysis onto blotting paper will be made during a routine visit in patients with cryptogenic cirrhosis, NASH (isolated or associated with other liver disease).\n\nOral and written information will be given by the clinician. Only research team members will have access to patient data and their analysis. The patient data (age, gender, medical history, etiology of liver disease, liver function, lipid, glucose, radiological ...) will be collected and stored in an Excel file.\n\nThe diagnosis analysis deficit LAL will be performed as described in the article by Hamilton.', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* liver post-transplant patient\n* patients with cryptogenic cirrhosis, NASH\n\nExclusion Criteria:\n\n* Patients without metabolic syndrome clinical, biological or radiological.'}, 'identificationModule': {'nctId': 'NCT02851550', 'acronym': 'LALTH-2', 'briefTitle': 'Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'Assessement of the Prevalence of Lysosomal Acid Lipase Deficiency in Liver Post-transplant Patients', 'orgStudyIdInfo': {'id': '69HCL16_0485'}}, 'contactsLocationsModule': {'locations': [{'zip': '69004', 'city': 'Lyon', 'status': 'RECRUITING', 'country': 'France', 'contacts': [{'name': 'Sylvie Radenne, MD', 'role': 'CONTACT', 'email': 'sylvie.radenne@chu-lyon.fr', 'phone': '(0)4 26 10 93 59', 'phoneExt': '+33'}, {'name': 'Isabelle Delfour', 'role': 'CONTACT', 'email': 'isabelle.delfour@chu-lyon.fr', 'phone': '(0)4 26 73 27 25', 'phoneExt': '+33'}], 'facility': 'Hépato-Gastro-Entérologie, Hôpital de la Croix Rousse, 103 gde rue de la Croix Rousse', 'geoPoint': {'lat': 45.74906, 'lon': 4.84789}}], 'centralContacts': [{'name': 'Sylvie Radenne, MD', 'role': 'CONTACT', 'email': 'sylvie.radenne@chu-lyon.fr', 'phone': '(0)4 26 10 93 59', 'phoneExt': '+33'}, {'name': 'Isabelle Delfour', 'role': 'CONTACT', 'email': 'isabelle.delfour@chu-lyon.fr', 'phone': '(0)4 26 73 27 25', 'phoneExt': '+33'}], 'overallOfficials': [{'name': 'Sylvie Radenne, MD', 'role': 'PRINCIPAL_INVESTIGATOR', 'affiliation': 'Hospices Civils de Lyon'}]}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'Hospices Civils de Lyon', 'class': 'OTHER'}, 'responsibleParty': {'type': 'SPONSOR'}}}}