Идёт набор NCT04920812

MITOMICS : a Multi-OMICS Approach for the Diagnosis of Mitochondrial Diseases

— Наблюдательное Mitochondrial Diseases

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: diagnosis of mitochondrial myopathy.
Кому может быть актуально: Состояния в реестре: Mitochondrial Diseases. 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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Официальное название

Interest of Multi-omics (WES / RNA-Seq) Approach to Fight Against the Diagnostic Deadlock in Mitochondrial Diseases

Обзор

MITOMICS aims to determine which RNA-Seq results (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. Analysis of RNA-Seq and WES results will performed with a computational approach using an autoencoder-based method

Подробное описание

Mitochondrial diseases (MD) are rare, clinically and genetically extremely heterogeneous, caused by a deficit of energy production via the mitochondria. Mitochondria are dependent on 2 genomes mitochondrial DNA and nuclear DNA, and many pathogenic variants carried by these 2 genomes are responsible for mitochondrial diseases. The diagnostic strategies for MD patients have evolved significantly with the emergence of Next Generation Sequencing (NGS) also accelerating the identification of the responsible gene. However, the diagnostic yield remains limited and requires the development of new approaches. Previous studies showed that WES and RNA-Seq combination improves the diagnosis of MD, essentially by helping in the interpretation of identified VUS.

With MITOMICS project, we will included 66 patients suspected of a mitochondrial myopathy (clinical, histological or biochemical), with a negative mtDNA and WES NGS in trio. For each patient we will sequenced RNA from muscle and fibroblasts. Using a new innovative methology of multi-OMICS integration we will determined which RNA-Seq data (from muscle or fibroblasts) are the most informative for the interpretation of VUS identified by WES for patients suspected of mitochondrial myopathy. The results obtained will allow the interpretation of VUS and the identification of specific molecular signatures.

Вмешательства

Генная терапия diagnosis of mitochondrial myopathy
• Determination of the presence of specific molecular signatures at the RNA level in muscles and fibroblasts from patients

Первичные конечные точки

number of variations interpreted as responsible for the Mitochondrial diseases [Срок оценки: baseline]

Вторичные конечные точки (3)

RNA in mitochondiral deseases [Срок оценки: baseline]
variation of RNA in mitochondiral deseases [Срок оценки: baseline]
specific molecular signatures of mitochondiral deseases [Срок оценки: baseline]

Критерии участия

Критерии включения

Patients suspected of a mitochondrial disease with muscular signs (clinical, histological or biochemical)
Patients with negative mtDNA and WES NGS in trio
Patients with routine muscle and skin biopsies available
Blood samples from parents and / or relatives available for segregation studies
Informed consent of the study signed by the patient or the legal representatives of the minor patient or under guardianship
Patients affiliated to social security