Ignite Creation Date:
2025-12-24 @ 7:49 PM
Ignite Modification Date:
2026-02-01 @ 5:37 PM
Study NCT ID:
NCT02852304
Status:
UNKNOWN
Last Update Posted:
2016-08-02
First Post:
2016-07-28
Is NOT Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.
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': '2015-10'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2016-07', 'completionDateStruct': {'date': '2018-03', 'type': 'ESTIMATED'}, 'lastUpdateSubmitDate': '2016-07-28', 'studyFirstSubmitDate': '2016-07-28', 'studyFirstSubmitQcDate': '2016-07-28', 'lastUpdatePostDateStruct': {'date': '2016-08-02', 'type': 'ESTIMATED'}, 'studyFirstPostDateStruct': {'date': '2016-08-02', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2017-10', 'type': 'ESTIMATED'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant', 'timeFrame': 'During the routine visit (Day 1)', 'description': 'Assessment of deficiency Lysosomal Acid Lipase prevalence in patients waiting for a liver transplant'}]}, 'oversightModule': {'oversightHasDmc': False}, 'conditionsModule': {'keywords': ['liver', 'transplant', 'Lysosomal Acid Lipase'], 'conditions': ['Patients Waiting for a Liver Transplant.']}, '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 patients waiting for a liver transplant.\n\nPatients will be included when they will be registered on the liver transplant waiting list.\n\nThe 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* patients registered on the liver transplant waiting list.\n* patients with cryptogenic cirrhosis, NASH\n\nExclusion Criteria:\n\n* Patients without metabolic syndrome clinical, biological or radiological.'}, 'identificationModule': {'nctId': 'NCT02852304', 'acronym': 'LALTH-1', 'briefTitle': 'Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.', 'organization': {'class': 'OTHER', 'fullName': 'Hospices Civils de Lyon'}, 'officialTitle': 'Assessment of the Prevalence of Lysosomal Acid Lipase Deficiency in Patients Waiting for a Liver Transplant.', 'orgStudyIdInfo': {'id': '69HCL16_0428'}}, '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'}], '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'}}}}