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

Mitochondrial Diseases Clinical Trial

— NAMDC  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT01694940
• Other study ID #: AAAF4597
• Secondary ID: U54NS078059
• Status: Recruiting
• Start date: December 2010
• Est. completion date: December 2025

Study information

• Verified date: July 2022
• Source: Columbia University
• Contact: Michio Hirano, MD
• Phone: 12123051048
• Email: NAMDC[@]columbia.edu
• Is FDA regulated: No
• Study type: Observational

Clinical Trial Summary

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

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 1000
• Est. completion date: December 2025
• Est. primary completion date: December 2025
• Accepts healthy volunteers: Accepts Healthy Volunteers
• Gender: All
• Age group: N/A and older

Eligibility

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.

Related Conditions & MeSH terms

• Deletion and Duplication of Mitochondrial DNA
• Disease
• Disorder of Mitochondrial Respiratory Chain Complexes
• Genetic Diseases, Inborn
• Mitochondrial Diseases
• Mitochondrial Disorders
• Mitochondrial Genetic Disorders

Locations

Country	Name	City	State
Canada	McMaster University	Hamilton	Ontario
United States	Akron Children's Hospital	Akron	Ohio
United States	Children's Hospital of Colorado	Aurora	Colorado
United States	Massachusetts General Hospital	Boston	Massachusetts
United States	Case Western Reserve University	Cleveland	Ohio
United States	Cleveland Clinic	Cleveland	Ohio
United States	University of Florida	Gainesville	Florida
United States	Baylor College of Medicine	Houston	Texas
United States	Columbia University Medical Center	New York	New York
United States	Virtual Site (Remote enrollment)	New York	New York
United States	The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania
United States	Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania
United States	Mayo Clinic	Rochester	Minnesota
United States	University of California San Diego	San Diego	California
United States	Seattle Children's Hospital and Regional Medical Center	Seattle	Washington
United States	Lucile Packard Children's Hospital	Stanford	California
United States	Children's National Medical Center	Washington	District of Columbia

Sponsors (2)

Lead Sponsor	Collaborator
Columbia University	National Institute of Neurological Disorders and Stroke (NINDS)

Countries where clinical trial is conducted

United States,  Canada, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	There is no primary outcome measure for this study	This is a registry protocol and therefore there is no primary outcome measure for this study.	end of study

External Links

•   Rare Disease Clinical Research Network NAMDC Home Page