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 are a patient (or a relative of a patient) who has been clinically diagnosed with a neuromuscular disorder (a condition affecting the muscles or the nerves that control them) or an eating disorder (confirm with trial site regarding exact conditions covered)
- Previous genetic testing (such as genome sequencing or chromosomal analysis) gave unclear or incomplete results — for example, no clear disease-causing genetic change was found, or only one copy of a relevant genetic change was identified when two would normally be expected
- Previous genetic testing found a large area of identical DNA surrounding a gene that may be linked to the condition (confirm with trial site)
- Previous genetic testing found an uncertain or hard-to-detect genetic change in a gene known to be linked to these conditions
- You are willing and able to sign a consent form agreeing to take part in the study
Who may not be able to join:
- Families where testing would involve both parents (who are unaffected by the condition) but one or both parents do not agree to take part — in these cases the family would not be eligible
- Families spanning multiple generations where fewer than three affected family members are available to participate
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
Identification of genomic variants
Can't join this trial?
Data last synced from ClinicalTrials.gov: 23 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.