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:
- Anyone between the ages of 0 and 90 years old
- People who a specialist doctor suspects may have a rare or genetic disease, based on their symptoms or test results (for example, features that match a known genetic syndrome, a muscle or nerve condition, or a heart condition like hypertrophic or dilated cardiomyopathy), and who need genetic testing
- People whose symptoms suggest they may have a rare or genetic disease, even if it doesn't clearly match any specific known condition
- People who are suspected of having a rare or genetic disease and have already had genetic tests done, but those tests came back with no clear result
- People who have already been given a genetic diagnosis and could benefit from further questions being answered, such as finding a more personalised prevention or treatment plan
Who may not be able to join:
- People (including patients, parents, or legal guardians) who do not wish to take part in the trial for any reason
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: Giovanni Scambia, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Phone: +390630155701
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
Reduce diagnostic timelapse of rare genetic conditions
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.