Diagnostic Research in Patients With Rare Diseases -Solving the Unsolved Rare Diseases

Launched by CENTRE HOSPITALIER UNIVERSITAIRE DIJON · Jul 17, 2019

Keywords

ClinConnect Summary

The Solve-RD clinical trial is focused on finding the genetic causes of rare diseases that have not been identified through current testing methods. Many rare diseases are believed to have a genetic basis, but traditional tests often miss certain genetic changes, especially those that occur in non-coding regions of DNA or are newly formed mutations. By using advanced data analysis techniques and studying samples from both affected individuals and their healthy parents, researchers hope to uncover new genetic factors that contribute to these diseases. This project is supported by the European Union and aims to improve the diagnosis and understanding of rare diseases, which could lead to better treatment options in the future.

To participate in this trial, individuals must have a rare disease with an unclear genetic cause and have previously undergone genetic testing without a clear result. They also need to provide written consent, and it’s important that they have healthy parents available for analysis. Participants can expect their samples to be re-examined using new methods, and their involvement will help researchers learn more about these complex conditions. The trial is currently recruiting participants, and no additional visits are required beyond the initial sample collection.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Persons or legal guardian who have given their written informed consent
• • Unclear molecular cause of the disease corresponding to the list of diseases selected by the Solve-RD data interpretation force (principal investigator part of the team)
• • Suspected genetic cause of the disease with negative exome reanalysis
• • Healthy parents available for trio analysis
• Exclusion Criteria:
• • Person not affiliated to a national health insurance scheme