Using multi-omics to diagnose mitochondrial diseases

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

MITOMICS focuses on improving the diagnosis of mitochondrial diseases by analyzing RNA sequencing results from muscle and fibroblast samples. The study includes 66 patients suspected of mitochondrial myopathy who have previously undergone negative mitochondrial DNA and whole exome sequencing. By employing a novel computational approach that integrates multi-omics data, the study aims to identify which RNA-Seq results are most informative for interpreting variants of uncertain significance (VUS) found in genetic testing. This innovative methodology seeks to enhance diagnostic accuracy and identify specific molecular signatures associated with mitochondrial diseases.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* 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

Exclusion Criteria:

* Patients with suspected mitochondrial disease without muscle involvement
* Patients for whom the mtDNA NGS and WES have not been performed
* Patients with suspected mitochondrial disease with causal variant identified
* Refusal to sign the informed consent for the study
* Insufficient amount of frozen material or culture failure for fibroblasts

Where it's running

• CHU de Nice
  Nice, CHU de NICE, France Recruiting
• Chu de Nantes
  Nantes, France, France Recruiting
• chu Angers
  Angers, France Recruiting
• Aphm
  Marseille, France Recruiting
• Aphm
  Marseille, France Recruiting
• Chu Montpellier
  Montpellier, France Recruiting

Study contacts

• Principal investigator: Sylvie Bannwarth — Centre Hospitalier Universitaire de Nice
• Study coordinator: Sylvie Bannwarth
• Email: bannwarth.s@chu-nice.fr
• Phone: 0492034702

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Metabolic and Functional Study of γδ T Cells in Critically Ill Patients

  Researchers will look at how γδ T cells behave in severely ill patients, including those with sepsis, to see how their metabolism and function change.

  Recruiting Union Hospital, Tongji Medical College, Huazhong University of Science and Technology · Wuhan, Outside of the US · NCT07680816

• Open-label extension to test KL1333 long-term safety and benefit for primary mitochondrial disease

  This extension study will see if KL1333 can be safely used long-term and whether it helps reduce fatigue and improve daily living in adults with primary mitochondrial disease who previously took KL1333 or placebo.

  Recruiting at 23 sites Phase 2 Pharming Technologies B.V. · Akron, Ohio and 22 other locations · NCT07514338

• One-leg exercise training to improve muscle energy and function in adults with mitochondrial myopathy

  This project tests whether a short program of one-leg high-intensity interval exercise changes muscle energy production and molecular signals in adults with mitochondrial myopathy compared with healthy adults.

  Recruiting University of Copenhagen · Copenhagen · NCT07450690

• Using transcriptomic analysis to diagnose mitochondrial diseases

  This study is testing a new way to diagnose mitochondrial diseases by looking at gene activity in patients' cells to help those who haven't been diagnosed yet.

  Recruiting at 2 sites Centre Hospitalier Universitaire de Nice · Nice, Alpes-maritimes and 1 other locations · NCT06621732

• Observing the natural history of mitochondrial diseases

  This study is tracking 400 people with mitochondrial diseases and 100 healthy individuals over 10 years to see how the disease affects them and to help improve future diagnosis and treatment.

  Recruiting Neuroscience Research Australia · Randwick, New South Wales · NCT06504433

• Sonlicromanol for symptoms of primary mitochondrial disease due to the m.3243A>G mutation

  This will test whether taking sonlicromanol twice daily for one year can reduce fatigue and improve balance and leg strength in adults with the m.3243A>G mitochondrial mutation.

  Recruiting at 7 sites Phase 3 Khondrion BV · Boston, Massachusetts and 9 other locations · NCT06451757

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.