Registry and biorepository for patients with mitochondrial disorders

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

The North American Mitochondrial Disease Consortium (NAMDC) maintains a registry and biorepository aimed at facilitating research on mitochondrial disorders. This initiative addresses the challenges of low patient frequency and under-diagnosis by providing a centralized resource for patient samples, data, and contact information. The consortium, led by experts in the field, aims to enhance recruitment for clinical studies and improve understanding of these serious genetic conditions. By collecting and sharing vital patient information, NAMDC seeks to advance both clinical and laboratory research in mitochondrial diseases.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Patients diagnosed with or suspected to have a mitochondrial disorder
* Adult carriers of known mitochondrial DNA mutations
* Patients with laboratory analysis indicative of a mitochondrial disorder.
* Medical information and tissue samples are also accepted from deceased individuals who fulfill the above criteria.

Exclusion Criteria:

* Patients not suspected of having a mitochondrial disorder
* Patients not suspected of carrying a mitochondrial DNA or nuclear DNA mutation that affects mitochondrial function.

Where it's running

• University of California San Diego
  San Diego, California, United States Recruiting
• Lucile Packard Children's Hospital
  Stanford, California, United States Recruiting
• Children's Hospital of Colorado
  Aurora, Colorado, United States Recruiting
• Children's National Medical Center
  Washington D.C., District of Columbia, United States Recruiting
• University of Florida
  Gainsville, Florida, United States Recruiting
• Massachusetts General Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Study coordinator: Michio Hirano, MD
• Email: NAMDC@columbia.edu
• Phone: 12123051048

Similar studies

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

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

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

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• Using transcriptomic analysis to diagnose mitochondrial diseases

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• Observing the natural history of mitochondrial diseases

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

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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.