NCT05499091 Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Trial Parameters

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Brief Summary

Next generation sequencing (NGS) allows some better diagnostic results, particularly, in the rare diseases field. At a twenty five percent rate, those exams highlight some variants which are not yet described in human pathology. The relationship between a variant found inside a candidate gene and a pathology, is able to be confirmed by functional studies at a protein level. This study aims to build a biological collection to feed further functional studies to confirm the relationship between NGS identified variants, and the clinical signs and symptoms.

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 BaM

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