Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Launched by UNIVERSITY HOSPITAL, ANGERS · Aug 10, 2022

Keywords

ClinConnect Summary

The ORIGIN clinical trial is focused on understanding rare genetic diseases by studying specific changes in genes that might be causing these conditions. Researchers are using advanced genetic testing, called next-generation sequencing (NGS), which can sometimes uncover unusual genetic variations that have not been fully understood before. This study aims to collect biological samples from participants to further explore how these genetic changes relate to the symptoms people experience.

To take part in this trial, you or your family member must be affected by a rare disease that is not well understood at the molecular level. Eligible participants include both patients and their family members, such as parents and siblings, as long as they are registered in the French rare disease database and are part of the French social security system. Participants will provide consent, and throughout the study, they can expect to contribute to important research that may help clarify the link between genetic variations and the diseases. This could ultimately lead to better diagnoses and treatments for rare diseases.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• Patient :
• • Child or adult affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• • Patient included inside the BaMaRa (French rare disease national data bank) database dedicated to the rare diseases.
• • Patient Affiliated to the French social security system.
• • Patient consent form or legal representative consent form obtained.
• Patient's parent :
• • Parent of a patient affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• • Parent included in the BaMaRa database.
• • Parent affiliated to the French social security system.
• • Parent consent form obtained for himself/herself.
• Patient's brother or sister :
• • Brother or sister of a patient (underage or adult) affected by a rare disease whose molecular functions are not known, or whose pathophysiologic mechanism are not fully understood.
• • Brother or sister included in the BaMaRa database.
• • Brother or sister affiliated to the French social security system.
• • Brother or sister consent form obtained for themselves or from their legal representative.
• Exclusion Criteria:
• • Poor understanding of the French language
• • Legal of administrative liberty deprivation
• • Psychiatric force care