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:
Healthy volunteers group:
- Men and women who are adults and considered healthy
- You must be willing and able to sign a consent form agreeing to take part
Validation group:
- Men and women who are adults
- You have a genetic disease that affects how your genes are read or copied in a specific way (such as certain mutations, deletions, or gene processing errors) (confirm with trial site)
- You must be willing and able to sign a consent form agreeing to take part
Discovery group:
- Men, women, or children who have a rare genetic disease that has not yet been diagnosed, including those where symptoms started in infancy or early adulthood
- You have had previous genetic testing (such as a broad gene scan) that did not find a clear answer, but doctors still suspect a genetic condition is causing your symptoms
- You must be willing and able to sign a consent form agreeing to take part
Who may not be able to join:
- People who are unable to understand the possible risks and benefits of taking part in the study
- People who do not have the legal ability to make their own decisions or give consent
- People under 18 years of age (applies specifically to the validation group)
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: Marina Noris, PhD, Istituto Di Ricerche Farmacologiche Mario Negri
Phone: +3903545351
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
Set up and validate the transcriptome analysis procedure in healthy controls and in patients diagnosed with known genetic diseases and with known splice/expression altering variants; Analyse alterations of mRNA levels and splicing in cultured fibroblasts derived from patients with rare diseases and an inconclusive WES. To investigate the heterogeneity of the transcriptomic and proteomic profile
Can't join this trial?
Data last synced from ClinicalTrials.gov: 27 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.