Ignite Creation Date:
2025-12-24 @ 12:03 PM
Ignite Modification Date:
2026-02-26 @ 6:53 AM
Study NCT ID:
NCT02416661
Status:
COMPLETED
Last Update Posted:
2021-05-28
First Post:
2015-03-13
Is Gene Therapy:
True
Has Adverse Events:
False
Brief Title:
Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease
Sponsor:
Organization:
Raw JSON
{'hasResults': False, 'derivedSection': {'miscInfoModule': {'versionHolder': '2025-12-24', 'removedCountries': ['Algeria', 'Egypt', 'Germany', 'Iran', 'Mexico', 'Russia', 'Sweden', 'Tunisia', 'United States', 'Venezuela']}, 'conditionBrowseModule': {'meshes': [{'id': 'D016464', 'term': 'Lysosomal Storage Diseases'}, {'id': 'D005776', 'term': 'Gaucher Disease'}, {'id': 'D013106', 'term': 'Sphingolipidoses'}, {'id': 'D008206', 'term': 'Lymphatic Diseases'}, {'id': 'D008052', 'term': 'Lipid Metabolism, Inborn Errors'}, {'id': 'D052439', 'term': 'Lipid Metabolism Disorders'}, {'id': 'D008064', 'term': 'Lipidoses'}], 'ancestors': [{'id': 'D008661', 'term': 'Metabolism, Inborn Errors'}, {'id': 'D030342', 'term': 'Genetic Diseases, Inborn'}, {'id': 'D009358', 'term': 'Congenital, Hereditary, and Neonatal Diseases and Abnormalities'}, {'id': 'D008659', 'term': 'Metabolic Diseases'}, {'id': 'D009750', 'term': 'Nutritional and Metabolic Diseases'}, {'id': 'D020140', 'term': 'Lysosomal Storage Diseases, Nervous System'}, {'id': 'D020739', 'term': 'Brain Diseases, Metabolic, Inborn'}, {'id': 'D001928', 'term': 'Brain Diseases, Metabolic'}, {'id': 'D001927', 'term': 'Brain Diseases'}, {'id': 'D002493', 'term': 'Central Nervous System Diseases'}, {'id': 'D009422', 'term': 'Nervous System Diseases'}, {'id': 'D006425', 'term': 'Hemic and Lymphatic Diseases'}]}}, 'protocolSection': {'designModule': {'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Blood sample applied on the Dry Blood Spot (DBS) Filtercard (Centocard®)'}, 'studyType': 'OBSERVATIONAL', 'designInfo': {'timePerspective': 'PROSPECTIVE', 'observationalModel': 'COHORT'}, 'enrollmentInfo': {'type': 'ACTUAL', 'count': 299}, 'patientRegistry': False}, 'statusModule': {'overallStatus': 'COMPLETED', 'startDateStruct': {'date': '2018-08-27', 'type': 'ACTUAL'}, 'expandedAccessInfo': {'hasExpandedAccess': False}, 'statusVerifiedDate': '2020-04', 'completionDateStruct': {'date': '2021-01-15', 'type': 'ACTUAL'}, 'lastUpdateSubmitDate': '2021-05-27', 'studyFirstSubmitDate': '2015-03-13', 'studyFirstSubmitQcDate': '2015-04-09', 'lastUpdatePostDateStruct': {'date': '2021-05-28', 'type': 'ACTUAL'}, 'studyFirstPostDateStruct': {'date': '2015-04-15', 'type': 'ESTIMATED'}, 'primaryCompletionDateStruct': {'date': '2021-01-15', 'type': 'ACTUAL'}}, 'outcomesModule': {'primaryOutcomes': [{'measure': 'Demonstrating the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients', 'timeFrame': '48 month', 'description': 'lyso-Gb1 will be analzyed via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) and compared to merged control. The LC/MRM-MS is performed on an ABSciex 6500 triple quadrupole mass spectrometer, coupled with a Waters Acquity UPLC.'}], 'secondaryOutcomes': [{'measure': 'Correlating lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3.', 'timeFrame': '48 month', 'description': 'lyso-Gb1 will be analysed over a period of 36 months via Liquid Chromatography Multiple Reaction-monitoring Mass Spectrometry (LC/MRM-MS) to demonstrate the course of the biomarker.'}]}, 'oversightModule': {'oversightHasDmc': True}, 'conditionsModule': {'keywords': ['Gaucher Disease type 1', 'Lymphatic Diseases', 'Lipid Metabolism, Inborn Errors', 'Lipid Metabolism Disorders', 'Lipidoses'], 'conditions': ['Lysosomal Storage Diseases', 'Gaucher Disease', 'Sphingolipidoses']}, 'referencesModule': {'references': [{'pmid': '28851512', 'type': 'DERIVED', 'citation': 'Elstein D, Mellgard B, Dinh Q, Lan L, Qiu Y, Cozma C, Eichler S, Bottcher T, Zimran A. Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naive and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials. Mol Genet Metab. 2017 Sep;122(1-2):113-120. doi: 10.1016/j.ymgme.2017.08.005. Epub 2017 Aug 24.'}]}, 'descriptionModule': {'briefSummary': 'International, multicenter, epidemiological study to demonstrate the correlation and predictive value of lyso-Gb1 concentration with the clinical severity of naïve, initially non-ERT/SRT Gaucher disease type 1 and during the study ERT/SRT-newly started Gaucher type 1 patients and to correlate lyso-Gb1 concentration with the clinical improvement of ERT or SRT treated Gaucher type 1 and the clinical course of non-treated patients based on GD-DS3', 'detailedDescription': "Gaucher disease is an autosomal recessive inherited lysosomal storage disorder. The disease is caused by the hereditary deficiency of the glucocerebrosidase, a lysosomal enzyme that breaks down glucocerebroside into glucose and ceramide.\n\nTo date a definitive diagnosis of Gaucher's disease can only be made applying biochemical testing measuring the reduced enzymatic activity of the beta-glucosidase together with genetic confirmation. Since numerous different mutations may be the cause of a particular lysosomal storage disease the sequencing of the entire beta-glucosidase gene is applied in Gaucher's disease in order to confirm the genetic diagnosis.\n\nThe use of primary storage molecules as biomarker was assessed for glucosylceramide (Gb1) in plasma of Gaucher's disease patients and compared to the level of Gb1 in healthy individuals.\n\nIn order to establish a sensitive and specific biomarker for GD, we compared mass spectra of the plasma of healthy controls and GD patients using HPLC and tandem mass spectrometry. Mass spectra that differed most between patients and controls were analysed in more detail. The resulting biomarker, which was patented in June 2011 (PCT/EP2012/002409), was lyso - Gb1. We identified this compound as a reliable, sensitive and specific biomarker for GD in a cohort of GD patients. Furthermore, in a pilot study we evaluated whether lyso-Gb1 is related to the specific genotypes and is reliable for long-term monitoring of the efficiency of therapy.\n\nThe aim this study is therefore to investigate lyso-Gb1 as a long-term prognostic marker in naïve, non-ERT/SRT GD type 1 patients by monitoring over the course of 36 months."}, 'eligibilityModule': {'sex': 'ALL', 'stdAges': ['CHILD', 'ADULT', 'OLDER_ADULT'], 'minimumAge': '6 Months', 'samplingMethod': 'PROBABILITY_SAMPLE', 'studyPopulation': 'Male or female patients aged 6 months or older with genetically confirmed diagnosis of Gaucher disease type 1 without treatment prior to enrollment or no treatment for more than 24 months ago', 'healthyVolunteers': False, 'eligibilityCriteria': 'Inclusion Criteria:\n\n* Male or female patients aged 6 months or older\n* Patients with genetically confirmed diagnosis of Gaucher disease type 1\n* No prior treatment with enzyme replacement therapy or substrate reduction therapy ro no traetment for more than 24 months\n* Signed informed consent by parents/legal guardian and patient\n\nExclusion Criteria:\n\n* Male or female patients being younger than 6 months\n* Patients without genetically confirmed diagnosis of Gaucher disease type 1\n* Gaucher disease 2 or 3\n* Patient is currently undergoing enzyme replacement therapy or substrate reduction therapy\n* Missing signed informed consent'}, 'identificationModule': {'nctId': 'NCT02416661', 'acronym': 'LYSO-PROOF', 'briefTitle': 'Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease', 'organization': {'class': 'INDUSTRY', 'fullName': 'CENTOGENE GmbH Rostock'}, 'officialTitle': 'Lyso-Gb1 as a Long-term Prognostic Biomarker in Gaucher Disease: An International, Multicenter, Epidemiological Protocol', 'orgStudyIdInfo': {'id': 'LP 06-2018'}}, 'armsInterventionsModule': {'armGroups': [{'label': 'Participants diagnosed with Gaucher disease', 'description': 'Participants with genetically confirmed diagnosis of Gaucher disease type 1 older than 6 months old'}]}, 'contactsLocationsModule': {'locations': [{'zip': '10001', 'city': 'Tirana', 'country': 'Albania', 'facility': 'University Hospital Center Mother Teresa', 'geoPoint': {'lat': 41.32744, 'lon': 19.81866}}, {'zip': '54642', 'city': 'Thessaloniki', 'country': 'Greece', 'facility': 'Aristotle University of Thessaloniki, Ippokration General Hospital', 'geoPoint': {'lat': 40.64072, 'lon': 22.93493}}, {'zip': '560100', 'city': 'Bangalore', 'country': 'India', 'facility': 'Centre for Human Genetics', 'geoPoint': {'lat': 12.97194, 'lon': 77.59369}}, {'zip': '9103 102', 'city': 'Jerusalem', 'country': 'Israel', 'facility': 'Shaare Zedek Medical Center', 'geoPoint': {'lat': 31.76904, 'lon': 35.21633}}, {'zip': '10100', 'city': 'Rabat', 'country': 'Morocco', 'facility': 'Children hospital', 'geoPoint': {'lat': 34.01325, 'lon': -6.83255}}, {'zip': '10100', 'city': 'Rabat', 'country': 'Morocco', 'facility': "Hopital d'Enfant", 'geoPoint': {'lat': 34.01325, 'lon': -6.83255}}, {'zip': '54600', 'city': 'Lahore', 'state': 'Punjab Province', 'country': 'Pakistan', 'facility': "The Children's Hospital and the Institute of Child Health", 'geoPoint': {'lat': 31.558, 'lon': 74.35071}}, {'zip': '08907', 'city': 'Barcelona', 'country': 'Spain', 'facility': 'Hospital Universitari de Bellvitge (planta 7.1)', 'geoPoint': {'lat': 41.38879, 'lon': 2.15899}}], 'overallOfficials': [{'name': 'Peter Bauer, M.D.', 'role': 'STUDY_CHAIR', 'affiliation': 'CENTOGENE GmbH Rostock'}]}, 'ipdSharingStatementModule': {'ipdSharing': 'UNDECIDED'}, 'sponsorCollaboratorsModule': {'leadSponsor': {'name': 'CENTOGENE GmbH Rostock', 'class': 'INDUSTRY'}, 'responsibleParty': {'type': 'SPONSOR'}}}}