NCT06796751Recruiting
PREcision Diagnostics in Rare genetIC Diseases and Tumors - Long Read Sequencing
Source: ClinicalTrials.gov · Last updated 31 Jan 2025 · Not updated for over 12 months - ask the site whether it is still open
Brief summary (registry, in English)
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 coming decades in human genetics.
- Status (registry)
- Recruiting
- Study type
- Observational
- Enrollment
- 30 (estimated)
- First submitted
- 22 Jan 2025
- Start date
- 1 Oct 2024
- Primary completion date
- 30 Sept 2026
- Lead sponsor
- IRCCS Azienda Ospedaliero-Universitaria di Bologna
- Diseases
- Childhood cancers
- NCT number
- NCT06796751
What you commit to
- Study type: Observational
- Planned participants: 30
- From 1 Oct 2024 to the primary completion date, 30 Sept 2026
- 1 site in 1 country
- Visits and tests: ask the trial team, the registry does not list them
Built from the registry fields of ClinicalTrials.gov. It describes the study, not your situation.
Who cannot take part
Copied verbatim from ClinicalTrials.gov and grouped by topic. Only the trial team decides who can take part.
Other
- none
Who the study is looking for
- 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 patients with a known single hit (a pathogenic or likely pathogenic variant) in an AR gene detected with WES or aCGH;
- patients/relatives of patients with a finding of complex structural variants whose molecular disease mechanism is to be elucidated.
Age in the registry: 28 days to - · Sex: All · Does not accept healthy volunteers
Sites (1)
Sites in registry order. Pick your city on the disease page to sort them by distance.
| Site | City | Country | Site status |
|---|---|---|---|
| IRCCS Azienda Ospedaliero-Universitaria di Bologna Coordinator of this site? Confirm its status | Bologna | Italy | Recruiting |
This page is information, not medical advice. Discuss any trial with your doctor.