NCT06775561 Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes
| NCT ID | NCT06775561 |
| Status | Recruiting |
| Phase | — |
| Sponsor | IRCCS Azienda Ospedaliero-Universitaria di Bologna |
| Condition | Neuromuscular Diseases |
| Study Type | OBSERVATIONAL |
| Enrollment | 100 participants |
| Start Date | 2023-05-20 |
| Primary Completion | 2025-05-20 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 100 participants in total. It began in 2023-05-20 with a primary completion date of 2025-05-20.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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
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).
Contact & Investigator
Tommaso Pippucci, Biologist
PRINCIPAL INVESTIGATOR
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Frequently Asked Questions
Who can join the NCT06775561 clinical trial?
This trial is open to participants of all sexes, studying Neuromuscular Diseases. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT06775561 currently recruiting?
Yes, NCT06775561 is actively recruiting participants. Contact the research team at tommaso.pippucci@unibo.it for enrollment information.
Where is the NCT06775561 trial being conducted?
This trial is being conducted at Bologna, Italy.
Who is sponsoring the NCT06775561 clinical trial?
NCT06775561 is sponsored by IRCCS Azienda Ospedaliero-Universitaria di Bologna. The principal investigator is Tommaso Pippucci, Biologist at IRCCS Azienda Ospedaliero-Universitaria di Bologna. The trial plans to enroll 100 participants.