Actively Recruiting
Precision Diagnosis and Therapy for Rare Diseases by Interpreting Non-coding Genomes (PARADIGM)
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
Researchers are investigating rare genetic diseases, focusing on Eye Diseases (ED) and Neuro-Muscular Diseases (NMD), which are complex disorders caused by various genetic factors. These diseases are well studied clinically and molecularly, and the study aims to explore the role of non-coding parts of the genome that might explain missing genetic causes. Both ED and NMD represent good models for this research because many genes involved cause autosomal recessive forms, increasing chances of finding important regulatory genetic variants. The study collects samples from patients and their relatives through clinical centers and performs genome and transcriptome sequencing on these samples. Advanced laboratory techniques, including in vitro experiments and patient-derived cell models like retinal organoids and muscle cells, are used to validate findings. The study also develops gene therapy methods targeting non-coding variants in retinal organoid models. Sequencing data are analyzed bioinformatically to identify genetic variants, which are then reviewed and tested for potential personalized therapies. Participants provide DNA/RNA samples and may undergo various tests including sequencing and cellular studies. Researchers track genomic changes and evaluate the significance of discovered variants. The study includes long-term follow-up for unresolved cases through advanced sequencing and data sharing. Overall, the trial combines clinical, molecular, and bioinformatic approaches to improve diagnosis and therapy development for these rare genetic diseases.
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
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Trial Site Locations
Total: 1 location
1
IRCCS Azienda Ospedaliero-Universitaria di Bologna
Bologna, Italy, 40138
Actively Recruiting
Research Team
T
Tommaso Pippucci, Biologist
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
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