Precision diagnosis and therapy for rare eye and neuromuscular diseases
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes (PARADIGM)
This study is testing new ways to find the genetic causes of rare eye and muscle diseases to help create more personalized treatments for patients.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 100 (estimated) |
| Sex | All |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna Academic / other |
| Locations | 1 site (Bologna) |
| Trial ID | NCT06775561 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients or relatives with a clinical diagnosis of neuromuscular or eye diseases, particularly those with inconclusive genetic testing results.
Not a fit: Patients without a clinical diagnosis of neuromuscular or eye diseases, or those whose families do not consent to participate, may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to more accurate diagnoses and personalized treatment options for patients with rare genetic diseases.
How similar studies have performed: While the approach of analyzing non-coding genomes is gaining traction, this specific study's focus on rare diseases represents a novel application in the field.
Eligibility criteria
Show full inclusion / exclusion 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 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 this trial is running
Bologna
- 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
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.