Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
Recruiting
Observational Study
Neuromuscular Diseases
Eye Diseases
Genetic Disease
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Sex
- Any
- Study type
- Observational
- Participants needed
- 100 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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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 partn…
Trial Locations
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Eligibility Criteria
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…
Contacts