Genomic profiling for patients with rare and genetic diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This initiative in Italy aims to address the challenges faced by over 2 million patients with rare diseases by integrating genomic knowledge into clinical practice. The project utilizes Whole Exome Sequencing (WES) to identify genetic mechanisms underlying these conditions, which often have long diagnostic processes and high healthcare costs. The Policlinico Universitario A. Gemelli IRCCS Foundation, a leading institute for rare diseases, manages a network of over 10,000 patients and seeks to enhance the understanding and treatment of rare diseases through advanced genetic analysis.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Age 0-90 years
* Patients with suspected rare disease/genetic disease diagnosed based on the clinical criteria/instrumental examination performed by a reference physician experienced in the specific condition (e.g., phenotype attributable to a known genetic syndrome, known neuromuscular disease, known organ-specific disease such as hypertrophic/dilated cardiomyopathy) to undergo genetic analysis
* Patients with a phenotype suggestive of a rare disease/genetic disease not specifically linked to a known condition
* Patients with suspected rare disease/genetic disease, who have undergone quantitative genetic analyses (e.g., array-CGH) or qualitative analyses (e.g., NGS panel of known genes), which yielded negative results
* Patients who have already received a genetic etiological diagnosis and for whom the current project can address further questions such as the personalization of a prevention or therapy pathway.

Exclusion Criteria:

* Individuals (patients, parents, and/or legal guardians) who refuse to participate in the project for any reason.

Where it's running

• Fondazione Policlinico Universitario A. Gemelli IRCCS, UOC PEDIATRIA
  Rome, Lazio, Italy Recruiting

Study contacts

• Principal investigator: Giovanni Scambia — Fondazione Policlinico Universitario Agostino Gemelli IRCCS
• Study coordinator: Giovanni Scambia
• Email: giovanni.scambia@policlinicogemelli.it
• Phone: +390630155701

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.