Rare Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- You or your family member has had a genetic test (called aCGH) that found a change in the amount of genetic material, but doctors are not sure if this change is causing any health problems
- You or your family member has had genetic tests (called WES and aCGH) that did not give a clear answer or find a definite disease-causing change
- You or your family member has had a genetic test (WES or aCGH) that found one copy of a potentially harmful change in a gene that usually needs two faulty copies to cause disease
- You or your family member has had a genetic test that found a complicated change in the structure of their DNA, and doctors need to understand better how this might be causing a health condition
Who may not be able to join:
- There are no stated reasons that would stop someone from joining this trial
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Tommaso Pippucci, Biologist, IRCCS Azienda Ospedaliero-Universitaria di Bologna
Phone: 0512142892
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
The first aim of this study is to use LRS to reach a molecular diagnosis in patients with RGD that were already tested with state-of-the-art genetic analysis, with ambiguous or negative results.
Can't join this trial?
Data last synced from ClinicalTrials.gov: 22 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.