Registry and biorepository for patients with mitochondrial disorders
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Columbia University · NCT01694940
This study is creating a database and collection of samples from people with mitochondrial disorders to help researchers learn more about these conditions and improve treatments.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 1000 (estimated) |
| Sex | All |
| Sponsor | Columbia University (other) |
| Locations | 17 sites (San Diego, California and 16 other locations) |
| Trial ID | NCT01694940 on ClinicalTrials.gov |
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.
Who should consider this trial
Good fit: Ideal candidates include patients diagnosed with or suspected to have a mitochondrial disorder, as well as adult carriers of known mitochondrial DNA mutations.
Not a fit: Patients who are not suspected of having a mitochondrial disorder or do not carry relevant mitochondrial or nuclear DNA mutations may not benefit from this study.
Why it matters
Potential benefit: If successful, this initiative could significantly improve research opportunities and treatment options for patients with mitochondrial disorders.
How similar studies have performed: Other studies focusing on patient registries and biobanks for rare diseases have shown success in enhancing research and treatment development.
Eligibility criteria
Show full inclusion / exclusion criteria
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 this trial is running
San Diego, California and 16 other locations
- 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)
- Mayo Clinic — Rochester, Minnesota, United States (RECRUITING)
- Columbia University Medical Center — New York, New York, United States (RECRUITING)
- Virtual Site (Remote enrollment) — New York, New York, United States (RECRUITING)
- Akron Children's Hospital — Akron, Ohio, United States (RECRUITING)
- Cleveland Clinic — Cleveland, Ohio, United States (RECRUITING)
- Case Western Reserve University — Clevland, Ohio, United States (RECRUITING)
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (RECRUITING)
- Children's Hospital of Pittsburgh — Pittsburgh, Pennsylvania, United States (RECRUITING)
- Baylor College of Medicine — Houston, Texas, United States (RECRUITING)
- Seattle Children's Hospital and Regional Medical Center — Seattle, Washington, United States (RECRUITING)
- McMaster University — Hamilton, Ontario, Canada (RECRUITING)
Study contacts
- Study coordinator: Michio Hirano, MD
- Email: NAMDC@columbia.edu
- Phone: 12123051048
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions: Mitochondrial Disorders, Mitochondrial Genetic Disorders, Mitochondrial Diseases, Disorder of Mitochondrial Respiratory Chain Complexes, Deletion and Duplication of Mitochondrial DNA, mitochondrial disorders, Mito Disease, Mitochondria