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Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

RecruitingNAAges any - anyAllUniversity Hospital, Angers
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In plain words

What the trial is, and whether it could suit you

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.

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๐Ÿ“‹ Eligibility rules (as published)
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
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What it tests

  • Skin biopsy, blood sample, urine sample
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Where

1 site
Centre Hospitalo-Universitaire d'Angers
Angers, France
๐Ÿค Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible โ€” always decide together with your own doctor.
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