Precision diagnosis and therapy for rare eye and neuromuscular diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

The PARADIGM project focuses on the genetic analysis of rare eye diseases and neuromuscular diseases, which are known for their genetic diversity. It aims to identify non-coding variants that may contribute to these conditions by utilizing advanced genomic techniques and bioinformatics. The study will involve collecting and analyzing multi-omics data from patients to streamline the process of personalized therapy. Collaborating institutions will perform various analyses, including genome sequencing and cellular modeling, to better understand the underlying genetic factors.

Why it matters

Who can join: the full rules

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 participate will be excluded (similarly, a minimum number of 3 affected family members will be needed in multigenerational pedigrees).

Where it's running

• IRCCS Azienda Ospedaliero-Universitaria di Bologna
  Bologna, Italy Recruiting

Study contacts

• Principal investigator: Tommaso Pippucci, Biologist — IRCCS Azienda Ospedaliero-Universitaria di Bologna
• Study coordinator: Tommaso Pippucci, Biologist
• Email: tommaso.pippucci@unibo.it
• Phone: 0512142892

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.