Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
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 approac
| Condition(s) | Neuromuscular Diseases, Eye Diseases, Genetic Disease |
|---|---|
| Status | Recruiting |
| Study type | Observational |
| Summary | 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: * both are genetically heterogeneous disorders where missing heritability is likely to be hidden in non-coding variants; * many of the individual genes accountable for the ED and NMD cause autosomal recessive forms, increasing the chance of finding regulatory/splicing variants |
| Who can participate | Inclusion Criteria: * patients/relatives of patients with clinical diagnosis of NMD/ED; * patients/relatives of patients with inconclusive ES and aCGH data (no pathogenic/likely 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; * patients/relatives of patients with a finding of cryptic VUS (splicing/regulatory/noncoding CNVs) in ED/NMD genes or pathogenic cryptic variants in a selected number of representative cases. * Signed informed consent to participate in the study. Exclusion Criteria: \- Trios or nuclear families where both unaffected parents do not consent to pa |
| Sex | All |
| Lead sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna |
| Locations | Bologna, Italy |
| Start date | 2023-05-20 |
| NCT ID | NCT06775561 |
| Official listing | https://clinicaltrials.gov/study/NCT06775561 |