Actively Recruiting
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
Led by IRCCS Azienda Ospedaliero-Universitaria di Bologna · Updated on 2025-01-15
100
Participants Needed
1
Research Sites
104 weeks
Total Duration
On this page
AI-Summary
What this Trial Is About
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
CONDITIONS
Official Title
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Patients or relatives of patients with a clinical diagnosis of neuromuscular diseases or eye diseases
- Patients or relatives of patients with inconclusive exome sequencing (ES) and comparative genomic hybridization (aCGH) results, showing no pathogenic or likely pathogenic variant
- Patients or relatives of patients with only one pathogenic or likely pathogenic variant found in an autosomal recessive gene by ES or aCGH
- Patients or relatives of patients with detection of a large region of genomic homozygosity surrounding a candidate gene
- Patients or relatives of patients with cryptic variants of uncertain significance (splicing, regulatory, noncoding CNVs) in eye or neuromuscular disease genes
- Patients or relatives of patients with pathogenic cryptic variants in selected representative cases
- Signed informed consent to participate in the study
You will not qualify if you...
- Families (trios or nuclear families) where both unaffected parents do not consent to participate
- Multigenerational families with fewer than three affected family members
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138
Actively Recruiting
Research Team
T
Tommaso Pippucci, Biologist
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
1
Not the Right Trial for You?
Explore thousands of other clinical trials that might be a better match.
Sign up to get personalized trial recommendations delivered to your inbox.
Already have an account? Log in here