PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Recruiting
Observational Study
Whole Exome Sequencing
Rare Diseases
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
- Age
- 28 Days and older
- Sex
- Any
- Study type
- Observational
- Participants needed
- 30 (estimated)
- Sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna · Other
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About This Trial
Using long-read sequencing (LRS) technology to achieve molecular diagnosis in patients with rare genetic diseases who have already been tested by state-of-the-art genetic analysis with ambiguous or negative results. This will lead to efficient and reliable identification and clinical interpretation of cryptic and complex structural genomic variants, which represent the central challenge for the co…
Trial Locations
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Eligibility Criteria
Inclusion Criteria:
* patients/relatives of patients with Copy Number Variations (CNVs), previously detected by aCGH, with uncertain clinical significance;
* patients/relatives of patients with inconclusive WES and aCGH data (no pathogenic/likely pathogenic variant);
* patients/relatives of patient…
Contacts