Nctid:
NCT06229769
Payload:
{"hasResults"=>false, "derivedSection"=>{"miscInfoModule"=>{"versionHolder"=>"2024-10-03"}, "conditionBrowseModule"=>{"meshes"=>[{"id"=>"D000017204", "term"=>"Angelman Syndrome"}, {"id"=>"D000013577", "term"=>"Syndrome"}], "ancestors"=>[{"id"=>"D000004194", "term"=>"Disease"}, {"id"=>"D000010335", "term"=>"Pathologic Processes"}, {"id"=>"D000009069", "term"=>"Movement Disorders"}, {"id"=>"D000002493", "term"=>"Central Nervous System Diseases"}, {"id"=>"D000009422", "term"=>"Nervous System Diseases"}, {"id"=>"D000000015", "term"=>"Abnormalities, Multiple"}, {"id"=>"D000000013", "term"=>"Congenital Abnormalities"}, {"id"=>"D000025063", "term"=>"Chromosome Disorders"}, {"id"=>"D000030342", "term"=>"Genetic Diseases, Inborn"}, {"id"=>"D000096803", "term"=>"Imprinting Disorders"}], "browseLeaves"=>[{"id"=>"M16355", "name"=>"Syndrome", "asFound"=>"Syndrome", "relevance"=>"HIGH"}, {"id"=>"M19508", "name"=>"Angelman Syndrome", "asFound"=>"Angelman Syndrome", "relevance"=>"HIGH"}, {"id"=>"M12029", "name"=>"Movement Disorders", "relevance"=>"LOW"}, {"id"=>"M5742", "name"=>"Central Nervous System Diseases", "relevance"=>"LOW"}, {"id"=>"M12", "name"=>"Congenital Abnormalities", "relevance"=>"LOW"}, {"id"=>"M14", "name"=>"Abnormalities, Multiple", "relevance"=>"LOW"}, {"id"=>"M23023", "name"=>"Chromosome Disorders", "relevance"=>"LOW"}, {"id"=>"M23686", "name"=>"Genetic Diseases, Inborn", "relevance"=>"LOW"}, {"id"=>"T389", "name"=>"Angelman Syndrome", "asFound"=>"Angelman Syndrome", "relevance"=>"HIGH"}], "browseBranches"=>[{"name"=>"Symptoms and General Pathology", "abbrev"=>"BC23"}, {"name"=>"All Conditions", "abbrev"=>"All"}, {"name"=>"Nervous System Diseases", "abbrev"=>"BC10"}, {"name"=>"Diseases and Abnormalities at or Before Birth", "abbrev"=>"BC16"}, {"name"=>"Rare Diseases", "abbrev"=>"Rare"}]}}, "protocolSection"=>{"designModule"=>{"bioSpec"=>{"retention"=>"SAMPLES_WITH_DNA", "description"=>"One EDTA sample of 5ml at baseline visit only"}, "studyType"=>"OBSERVATIONAL", "designInfo"=>{"timePerspective"=>"CROSS_SECTIONAL", "observationalModel"=>"CASE_ONLY"}, "enrollmentInfo"=>{"type"=>"ESTIMATED", "count"=>15}, "patientRegistry"=>false}, "statusModule"=>{"overallStatus"=>"RECRUITING", "startDateStruct"=>{"date"=>"2021-10-10", "type"=>"ACTUAL"}, "expandedAccessInfo"=>{"hasExpandedAccess"=>false}, "statusVerifiedDate"=>"2024-04", "completionDateStruct"=>{"date"=>"2028-01", "type"=>"ESTIMATED"}, "lastUpdateSubmitDate"=>"2024-04-24", "studyFirstSubmitDate"=>"2023-11-02", "studyFirstSubmitQcDate"=>"2024-01-17", "lastUpdatePostDateStruct"=>{"date"=>"2024-04-26", "type"=>"ACTUAL"}, "studyFirstPostDateStruct"=>{"date"=>"2024-01-29", "type"=>"ACTUAL"}, "primaryCompletionDateStruct"=>{"date"=>"2028-01", "type"=>"ESTIMATED"}}, "outcomesModule"=>{"otherOutcomes"=>[{"measure"=>"Blood sample collection and DNA extraction and storage", "timeFrame"=>"1 year", "description"=>"To create a DNA biobank"}], "primaryOutcomes"=>[{"measure"=>"Bayley-IV gross motor functions", "timeFrame"=>"2 years", "description"=>"Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation."}, {"measure"=>"Bayley-IV fine motor functions", "timeFrame"=>"2 years", "description"=>"Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation."}, {"measure"=>"Bayley-IV Cognitive", "timeFrame"=>"2 years", "description"=>"Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162)."}, {"measure"=>"Bayley-IV Receptive Communication", "timeFrame"=>"2 years", "description"=>"Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84)."}, {"measure"=>"Bayley-IV Expressive Communication", "timeFrame"=>"2 years", "description"=>"Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74)."}, {"measure"=>"Functional Mobility Scale (FMS)", "timeFrame"=>"2 years", "description"=>"Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running)."}, {"measure"=>"Developmental Milestones", "timeFrame"=>"2 years", "description"=>"Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). ."}, {"measure"=>"Hammersmith Infant Neurological Examination (HINE - if under 2 years old)", "timeFrame"=>"2 years", "description"=>"Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32)."}, {"measure"=>"Vineland-II", "timeFrame"=>"2 years", "description"=>"11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages.\n\nSubscales are composed as following (higher scores with better the abilites):\n\n1. Listening and understanding, raw score 0 to 40;\n2. Speaking, raw score 0 to 108,\n3. Reading and writing, raw score 0 to 54,\n4. Self caring, raw score 0 to 82,\n5. Home caring, raw score 0 to 48,\n6. Community living, raw score 0 to 88,\n7. Contact with others, raw score 0 to 76,\n8. Play and use your free time, raw score 0 to 62,\n9. Adapting, raw score 0 to 60,\n10. Gros motor, raw score 0 to 80,\n11. Fine motor, raw score 0 to 72,"}, {"measure"=>"Observed Reported Communication Assessment (ORCA)", "timeFrame"=>"2 years", "description"=>"Caregivers interview of 23 items with subscales to assessing the general communication.\n\nThis is a qualitative questionnaire."}, {"measure"=>"Continuous movement monitoring using ActiMyo®", "timeFrame"=>"2 years", "description"=>"To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures."}], "secondaryOutcomes"=>[{"measure"=>"Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)", "timeFrame"=>"2 years", "description"=>"Caregivers interview of quality of life severity and change in patient with Angelman Syndrome since last 7 days and since the last month.\n\nPart regarding the severity in last 7 days is composed of 9 items scored 0 (\"not at all difficult\") to 4 (\"very difficult\"), raw score is between 0 to 36.\n\nPart regarding change in last month is composed of 9 items scored 1 (\"very much improved\") to 7 (\"very much worse\"), raw score is between 0 to 63,"}, {"measure"=>"Pediatric Quality of Life (PedsQL)", "timeFrame"=>"2 years", "description"=>"Caregivers interview of quality of life and family impact in daily life separated in two parts, one regarding the last 7 days and one regarding the last month.\n\nTotal raw score for each part is on 100 (100 related to no impact to 0 related to a huge impact)."}]}, "oversightModule"=>{"oversightHasDmc"=>false, "isFdaRegulatedDrug"=>false, "isFdaRegulatedDevice"=>false}, "conditionsModule"=>{"keywords"=>["Actimyo°", "Accelerometry", "Daily living"], "conditions"=>["Angelman Syndrome"]}, "descriptionModule"=>{"briefSummary"=>"This study is a 4-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 1-year recruitment phase, a 2-year follow-up and a year to analyze the collected data. The investigators plan to include 10 patients with a semi-annual follow-up for 2 years.\n\nThe investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.", "detailedDescription"=>"Patients are seen every six months for two years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II)."}, "eligibilityModule"=>{"sex"=>"ALL", "stdAges"=>["CHILD", "ADULT", "OLDER_ADULT"], "samplingMethod"=>"NON_PROBABILITY_SAMPLE", "studyPopulation"=>"Patients with Angelman Syndrom", "healthyVolunteers"=>false, "eligibilityCriteria"=>"Inclusion Criteria:\n\n* Genetically confirmed diagnosis of AS\n* 0-99 years\n* Male or Female\n* Participant's carer is willing to give IC/sign a \"record of consultation\" for participation in the study\n\nExclusion Criteria:\n\n* comorbidity that could potentially affect the results of the study coexists. This"}, "identificationModule"=>{"nctId"=>"NCT06229769", "acronym"=>"NatHisAngelman", "briefTitle"=>"Natural History Study for Patients With Angelman Syndrome", "organization"=>{"class"=>"OTHER", "fullName"=>"Centre Hospitalier Universitaire de Liege"}, "officialTitle"=>"A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman", "orgStudyIdInfo"=>{"id"=>"NatHis-Angelman"}}, "contactsLocationsModule"=>{"locations"=>[{"zip"=>"4000", "city"=>"Liège", "status"=>"RECRUITING", "country"=>"Belgium", "contacts"=>[{"name"=>"Laura Buscemi", "role"=>"CONTACT", "email"=>"laura.buscemi@citadelle.be", "phone"=>"43215584", "phoneExt"=>"+32"}, {"name"=>"Laura Vanden Brande, Dr.", "role"=>"PRINCIPAL_INVESTIGATOR"}], "facility"=>"CHR Citadelle Liège", "geoPoint"=>{"lat"=>50.63373, "lon"=>5.56749}}], "centralContacts"=>[{"name"=>"Laura Buscemi", "role"=>"CONTACT", "email"=>"laura.buscemi@citadelle.be", "phone"=>"43215584", "phoneExt"=>"+32"}], "overallOfficials"=>[{"name"=>"Laura Vanden Brande", "role"=>"PRINCIPAL_INVESTIGATOR", "affiliation"=>"CHR Citadelle"}]}, "sponsorCollaboratorsModule"=>{"leadSponsor"=>{"name"=>"Centre Hospitalier Universitaire de Liege", "class"=>"OTHER"}, "collaborators"=>[{"name"=>"Centre Hospitalier Régional de la Citadelle", "class"=>"OTHER"}, {"name"=>"SYSNAV", "class"=>"INDUSTRY"}], "responsibleParty"=>{"type"=>"PRINCIPAL_INVESTIGATOR", "investigatorTitle"=>"Prof. Investigator of CRMN Liège, Principal investigator", "investigatorFullName"=>"Laurent Servais", "investigatorAffiliation"=>"Centre Hospitalier Universitaire de Liege"}}}}
