DNA sequencing of patient and family samples to help diagnose rare 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 is an observational, translational cohort study conducted at two centers, with one center recruiting patients. DNA from patients and their parents will be collected and stored, then sent to a partner institution for sequencing. Informed consent is required, and only cases with suspected genetic etiologies and no established diagnosis are eligible. The project is funded by the participating centers and uses existing biobank resources to support sequencing and data use. Overall, the study aims to explore how sequencing can support diagnostic efforts in rare genetic diseases.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Patients affected by a rare genetic disease.
* Patients for whom a clinical and/or molecular diagnosis has not yet been established.
* The referring IGG clinician considers the clinical phenotype worthy of further investigation and suggestive of a genetic etiology.
* The family consents to participate in the study, together with the affected individual, including undergoing WES and/or WGS and authorizing the use of the resulting data.

Exclusion Criteria:

* Failure to meet at least one of the inclusion criteria listed above.
* Previous whole-genome sequencing (WGS).

Where it's running

• IRCCS Istituto Giannina Gaslini
  Genova, Italy Recruiting

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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.