Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
AgeNot listed
SponsorIRCCS Azienda Ospedaliero-Universitaria di Bologna
About this trial
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
Eligibility criteria
Qualifiers
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.
Disqualifiers
None
Trial design
Treatments tested in this trial
- PARADIGM study aims to streamline the process from genomic characterization of RGD patients with ED/NMD to identification of the suitable personalized therapy.
Treatment groups
100 Participants
are divided into 1 treatment groupLocations
1IRCCS Azienda Ospedaliero-Universitaria di Bologna40138, Bologna Italy
Sponsors and collaborators
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Lead sponsor
Source ClinicalTrials.gov