Идёт набор NCT05499091

Functional Study to Indentify Genetic Etiology of Rare Diseases - ORIGIN

Без фазы С лечением Rare Diseases Genetic Disease

Ориентир для пациента и семьи

Простыми словами

Автоматическая сводка по структурированным данным реестра. Она помогает сориентироваться, но не заменяет официальный протокол или оценку врача.

Что изучают: В протоколе указаны: Skin biopsy, blood sample, urine sample.
Кому может быть актуально: Состояния в реестре: Rare Diseases, Genetic Disease. Базовые параметры: Без ограничений · Все.
Что важно проверить: Возраст, диагноз и пол — только базовые ориентиры. Предыдущее лечение, анализы и другие обязательные условия указаны ниже в критериях участия.
Где проводится: Франция
Следующий шаг: Сохраните исследование, покажите его лечащему врачу и уточните актуальный статус у исследовательского центра. Расходы, документы и поездка →

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Обзор

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.

Вмешательства

Процедура Skin biopsy, blood sample, urine sample
blood samples, urine samples, skin samples.

Первичные конечные точки

Identification of at least 80 new genes implicated in rare diseases via high-throughput sequencing technics and through functional studies. [Срок оценки: 23 years]
Collecting biological samples to build up a biobank [Срок оценки: 23 years]
Candidat gene validation through functional studies. [Срок оценки: 23 years]

Критерии участия

Критерии включения

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.