North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Recruiting

• Conditions: Mitochondrial Disorders; Mitochondrial Genetic Disorders; Mitochondrial Diseases; Disorder of Mitochondrial Respiratory Chain Complexes; Deletion and Duplication of Mitochondrial DNA

• Registration Number: NCT01694940
• Lead Sponsor: Columbia University

Brief Summary

The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Detailed Description

Mitochondrial diseases comprise a group of relatively rare (\~1 in 5000 adults) but very serious genetic disorders. Mitochondria are often called the "powerhouses of the cell" because they provide the energy our cells need to live. Mitochondria have their own DNA (mtDNA), but they also rely on DNA from the nucleus (nDNA). Mitochondrial diseases are caused by mutations in either mitochondrial or nuclear DNA that result in poorly functioning mitochondria. This can cause a variety of symptoms including muscle weakness, seizures, mental retardation, dementia, hearing loss, blindness, strokes, diabetes, and premature death. Most mitochondrial diseases are progressive, and we are unable to cure most of these diseases with currently available treatments.

Research into mitochondrial diseases has been hampered by the low frequency of these disorders and by under-diagnosis by clinicians. This has hindered patient recruitment for research studies and clinical trials. The North American Mitochondrial Disease Consortium (NAMDC) was established to help surmount these issues. Led jointly by Drs. Michio Hirano and Salvatore DiMauro, NAMDC is a consortium of several clinicians and researchers with an interest in mitochondrial disease research in the United States and Canada.

By creating a mechanism for the sharing of patient samples with researchers, data and patient contact information, NAMDC will make it easier to conduct clinical and basic laboratory research.

Patient information will be shared through the use of the "Patient Data Registry," a specially-designed database, and patient tissue samples will be shared through the use of the "Patient Sample Biorepository", a storage facility in which patient-derived biological samples will be maintained. The Registry and the Biorepository will hopefully accelerate progress in the understanding and treatment of mitochondrial disease.

Patients can enroll at any of the NAMDC member sites. A web-based remote enrollment is also available at www.namdc.org for eligible patients who reside far from any of the NAMDC participating sites.

Study Timeline

• Study Start: 2010-12
• Study First Submitted: 2012-09-25
• Study First Submitted QC: 2012-09-25
• Study First Posted: 2012-09-27
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-28
• Last Update Posted: 2022-08-01
• Primary Completion: 2025-12
• Study Completion: 2025-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 1000

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.

Read More

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.

Read More

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
There is no primary outcome measure for this study	end of study	This is a registry protocol and therefore there is no primary outcome measure for this study.

Trial Locations

Locations (17)

University of California San Diego; 🇺🇸 San Diego, California, United States

Massachusetts General Hospital; 🇺🇸 Boston, Massachusetts, United States

Case Western Reserve University; 🇺🇸 Cleveland, Ohio, United States

Cleveland Clinic; 🇺🇸 Cleveland, Ohio, United States

Seattle Children's Hospital and Regional Medical Center; 🇺🇸 Seattle, Washington, United States

Baylor College of Medicine; 🇺🇸 Houston, Texas, United States

Children's National Medical Center; 🇺🇸 Washington, District of Columbia, United States

Akron Children's Hospital; 🇺🇸 Akron, Ohio, United States

Lucile Packard Children's Hospital; 🇺🇸 Stanford, California, United States

Columbia University Medical Center; 🇺🇸 New York, New York, United States

Virtual Site (Remote enrollment); 🇺🇸 New York, New York, United States

University of Florida; 🇺🇸 Gainesville, Florida, United States

Children's Hospital of Pittsburgh; 🇺🇸 Pittsburgh, Pennsylvania, United States

Children's Hospital of Colorado; 🇺🇸 Aurora, Colorado, United States

Mayo Clinic; 🇺🇸 Rochester, Minnesota, United States

McMaster University; 🇨🇦 Hamilton, Ontario, Canada

The Children's Hospital of Philadelphia; 🇺🇸 Philadelphia, Pennsylvania, United States