[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"health-study-detail:100575690":3},{"organization":4,"armGroups":7,"interventions":14,"overallOfficials":20,"centralContacts":24,"locations":29,"responsibleParty":46,"collaborators":10,"id":48,"slug":49,"hasResults":50,"nctId":51,"briefTitle":52,"officialTitle":53,"acronym":10,"eligibilityCriteria":54,"healthyVolunteers":50,"sex":55,"minAge":10,"maxAge":10,"enrollmentInfo":56,"targetDuration":10,"studyType":59,"phases":10,"briefSummary":60,"conditions":61,"keywords":10,"overallStatus":31,"whyStopped":10,"lastUpdateSubmitDate":65,"lastUpdatePostDateStruct":66,"startDateStruct":69,"completionDateStruct":71,"leadSponsor":73,"locationsCount":74},{"fullName":5,"class":6},"IRCCS Azienda Ospedaliero-Universitaria di Bologna","OTHER",[8],{"label":9,"type":10,"description":11,"interventionNames":12},"Genomic characterization of RGD patients with ED\u002FNMD",null,"* patients\u002Frelatives or parents of patients with a clinical diagnosis of rare eye and neuromuscular diseases\n* patients\u002Frelatives or parents of patients with inconclusive data from ESOMA and aCGH (no pathogenic\u002Fprobable pathogenic variant) or detection of a single hit (a pathogenic or probable pathogenic variant) in an autosomal recessive gene from ESOMA (or aCGH) or no pathogenic or probable pathogenic variant but detection of a large region of genomic homozygosity surrounding a candidate gene\n* patients\u002Frelatives or parents of patients with detection of cryptic VUS (variants of uncertain significance) (splicing\u002Fregulatory\u002Fnon-coding CNVs) in candidate genes or pathogenic cryptic variants in a selected number of representative cases.",[13],"Genetic: PARADIGM study aims to streamline the process from genomic characterization of RGD patients with ED\u002FNMD to identification of the suitable personalized therapy.",[15],{"type":16,"name":17,"description":18,"armGroupLabels":19,"otherNames":10},"GENETIC","PARADIGM study aims to streamline the process from genomic characterization of RGD patients with ED\u002FNMD to identification of the suitable personalized therapy.","Samples are collected by UO1\u002FUO2\u002FUO3. DNA\u002FRNA samples are sent to UO3 for genome and transcriptome sequencing. In vitro systems or patient-derived cell models are used for in vitro experimental validation (UO2) or development of therapeutical approaches (UO2\u002FUO4). Samples of cases still undiagnosed after the combined sequencing and validation approaches undergo long-read sequencing by an outsourcing facility. Sequencing data are transferred to UO1 for bioinformatic analysis and may be deposited into RDconnect for still inconclusive cases. Variants of interest from bioinformatic analyses and in vitro validations are collectively discussed by UO1\u002FUO2\u002FUO3 to evaluate their clinico-molecular significance and to be selected for testing therapeutic approaches by UO2\u002FUO4. Blue arrows and shapes denote samples and personal data, while green data that make no identifiable person.",[9],[21],{"name":22,"affiliation":5,"role":23},"Tommaso Pippucci, Biologist","PRINCIPAL_INVESTIGATOR",[25],{"name":22,"role":26,"phone":27,"phoneExt":10,"email":28},"CONTACT","0512142892","tommaso.pippucci@unibo.it",[30],{"facility":5,"status":31,"city":32,"state":10,"zip":33,"country":34,"countryCode":35,"cosmosGeoPoint":36,"geoPoint":41,"contacts":42},"RECRUITING","Bologna","40138","Italy","IT",{"type":37,"coordinates":38},"Point",[39,40],11.33875,44.49381,{"lat":40,"lon":39},[43,45],{"name":22,"role":26,"phone":44,"phoneExt":10,"email":28},"+390512142892",{"name":22,"role":23,"phone":10,"phoneExt":10,"email":10},{"type":47,"investigatorFullName":10,"investigatorTitle":10,"investigatorAffiliation":10,"oldNameTitle":10,"oldOrganization":10},"SPONSOR","100575690","precision-diagnosis-and-therapy-for-rare-diseases-by-interpreting-non-coding-genomes-100575690",false,"NCT06775561","Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes","Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes (PARADIGM)","Inclusion Criteria:\n\n* patients\u002Frelatives of patients with clinical diagnosis of NMD\u002FED;\n* patients\u002Frelatives of patients with inconclusive ES and aCGH data (no pathogenic\u002Flikely pathogenic variant) or finding of only a single hit (a pathogenic or likely pathogenic variant) in an autosomal recessive gene by ES (or aCGH) or no pathogenic or likely pathogenic variant but detection of a large region of genomic homozygosity surrounding a candidate gene;\n* patients\u002Frelatives of patients with a finding of cryptic VUS (splicing\u002Fregulatory\u002Fnoncoding CNVs) in ED\u002FNMD genes or pathogenic cryptic variants in a selected number of representative cases.\n* Signed informed consent to participate in the study.\n\nExclusion Criteria:\n\n\\- Trios or nuclear families where both unaffected parents do not consent to participate will be excluded (similarly, a minimum number of 3 affected family members will be needed in multigenerational pedigrees).","ALL",{"count":57,"type":58},100,"ESTIMATED","OBSERVATIONAL","PARADIGM study, funded by the PNRR research grant, will focus on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD) as groups of genetically heterogeneous diseases which are extensively studied by the Partners partecipating in the project; indeed ED and NMD are well clinically and molecularly characterized and approachable by drug-testing options already assessed and implemented by PARADIGM partners. ED and NMD represent good and compatible disease models as:\n\n* both are genetically heterogeneous disorders where missing heritability is likely to be hidden in non-coding variants;\n* many of the individual genes accountable for the ED and NMD cause autosomal recessive forms, increasing the chance of finding regulatory\u002Fsplicing variants",[62,63,64],"Neuromuscular Diseases","Eye Diseases","Genetic Disease","2025-01-09",{"date":67,"type":68},"2025-01-15","ACTUAL",{"date":70,"type":68},"2023-05-20",{"date":72,"type":58},"2025-05-20",{"name":5,"class":6},1]