Nctid:
NCT06616545
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-12-20"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D006008", "term"=>"Glycogen Storage Disease"}, {"id"=>"D006010", "term"=>"Glycogen Storage Disease Type III"}], "ancestors"=>[{"id"=>"D002239", "term"=>"Carbohydrate Metabolism, Inborn Errors"}, {"id"=>"D008661", "term"=>"Metabolism, Inborn Errors"}, {"id"=>"D030342", "term"=>"Genetic Diseases, Inborn"}, {"id"=>"D008659", "term"=>"Metabolic Diseases"}], "browseLeaves"=>[{"id"=>"M9114", "name"=>"Glycogen Storage Disease", "asFound"=>"Glycogen Storage Disease", "relevance"=>"HIGH"}, {"id"=>"M9116", "name"=>"Glycogen Storage Disease Type III", "asFound"=>"Glycogen Storage Disease Type III", "relevance"=>"HIGH"}, {"id"=>"M11641", "name"=>"Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M5498", "name"=>"Carbohydrate Metabolism, Inborn Errors", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"M11639", "name"=>"Metabolic Diseases", "relevance"=>"LOW"}, {"id"=>"T2563", "name"=>"Glycogen Storage Disease Type 3", "asFound"=>"Glycogen Storage Disease Type III", "relevance"=>"HIGH"}], "browseBranches"=>[{"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Nutritional and Metabolic Diseases", "abbrev"=>"BC18"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"PROSPECTIVE", "observationalModel"=>"COHORT"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>150}, "targetDuration"=>"10 Years", "patientRegistry"=>true}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"2013-09-01", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-09", "completionDateStruct"=>{"date"=>"2026-12", "type"=>"ESTIMATED"}, "lastUpdateSubmitDate"=>"2024-09-26", "studyFirstSubmitDate"=>"2024-09-23", "studyFirstSubmitQcDate"=>"2024-09-26", "lastUpdatePostDateStruct"=>{"date"=>"2024-09-27", "type"=>"ACTUAL"}, "studyFirstPostDateStruct"=>{"date"=>"2024-09-27", "type"=>"ACTUAL"}, "primaryCompletionDateStruct"=>{"date"=>"2026-12", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"primaryOutcomes"=>[{"measure"=>"Fasting period", "timeFrame"=>"Through study completion, an average of 10 years", "description"=>"Measuring changes in the duration of the fasting period"}], "secondaryOutcomes"=>[{"measure"=>"6MWT distance", "timeFrame"=>"Through study completion, an average of 10 years", "description"=>"Measurement of changes in distance covered in the 6-minute walk test."}]}, "oversightModule"=>{"isUsExport"=>false, "oversightHasDmc"=>false, "isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"conditions"=>["Glycogen Storage Disease Type III"]}, "descriptionModule"=>{"briefSummary"=>"Glycogen storage disease type III (GSD-III) or Cori/Forbes disease, is caused by autosomal recessive mutations in the AGL gene, which codes for the glycogen debranching enzyme (GDE) involved in the release of glucose-1P from glycogen branches. Abnormal glycogen accumulation is responsible for frequent hypoglycaemia and symptoms in the liver and striated muscles (GSD-IIIa), although some patients present with liver involvement only (GSD-IIIb). In childhood, the phenotype is mainly characterised by hepatomegaly, short stature and hypoglycaemia, with minimal skeletal muscle involvement. While liver symptoms improve spontaneously around puberty, skeletal muscle weakness develops progressively in adulthood and becomes a major feature of GSD-IIIa.\n\nCurrently, there is no treatment other than dietary management tailored to the individual to limit glycogen storage and avoid hypoglycaemia.\n\nThe French GSD-III registry is a multicentre online registry dedicated to patients with type III glycogen storage disease followed in France. It has been approved by ethical and regulatory authorities. Its main inclusion criteria is the presence of a proven pathogenic AGL gene mutation and/or reduced glycogen debranching enzyme activity.\n\nThe aims of the registry are to provide a tool for recording detailed diagnostic, metabolic, neurological, cardiac and biological data on French patients with GSD-III, so as to enable i) a precise natural history of the disease, ii) identification of the outcome measures most sensitive to disease progression, iii) assessment of the frequency of the various complications of the disease and iv) identification of prognostic factors."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"GSD type 3 patients from French national reference centres", "healthyVolunteers"=>false, "eligibilityCriteria"=>"Inclusion Criteria:\n\n* Patients with molecularly characterised Glycogen Storage Disease Type III\n\nExclusion Criteria:\n\n* Patients diagnosed with GSD type 3 refusing to take part in the study"}, "identificationModule"=>{"nctId"=>"NCT06616545", "briefTitle"=>"French Observatory for Patients with Type 3 Glycogenosis", "organization"=>{"class"=>"OTHER", "fullName"=>"Institut de Myologie, France"}, "officialTitle"=>"French Observatory for Patients with Type 3 Glycogenosis", "orgStudyIdInfo"=>{"id"=>"GSD3 French Registry"}}, "armsInterventionsModule"=>{"armGroups"=>[{"label"=>"Glycogen Storage Disease Type III"}]}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"92140", "city"=>"Clamart", "status"=>"RECRUITING", "country"=>"France", "contacts"=>[{"name"=>"Philippe LABRUNE, Pr", "role"=>"CONTACT", "email"=>"philippe.labrune@aphp.fr", "phone"=>"+33 1 45 37 42 72"}], "facility"=>"Aphp Antoine Beclere", "geoPoint"=>{"lat"=>48.80299, "lon"=>2.26692}}, {"zip"=>"94270", "city"=>"Le Kremlin-Bicêtre", "status"=>"RECRUITING", "country"=>"France", "contacts"=>[{"name"=>"Antoine GARDIN, MD - PhD", "role"=>"CONTACT", "phone"=>"+33 1 45 21 31 69"}], "facility"=>"CHU du Kremlin-Bicêtre", "geoPoint"=>{"lat"=>48.81471, "lon"=>2.36073}}, {"zip"=>"75013", "city"=>"Paris", "status"=>"RECRUITING", "country"=>"France", "contacts"=>[{"name"=>"Marion Masingue, MD", "role"=>"CONTACT", "email"=>"marion.masingue@aphp.fr", "phone"=>"+33 (0)1 42 16 37 74"}], "facility"=>"Institue of Myology", "geoPoint"=>{"lat"=>48.85341, "lon"=>2.3488}}]}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"Institut de Myologie, France", "class"=>"OTHER"}, "responsibleParty"=>{"type"=>"SPONSOR"}}}}
