Summary

healthy people welcome
at San Diego, California and other locations
study started
estimated completion:
Robert Naviaux Richard Haas

Description

Summary

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

Details

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.

Keywords

Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA Mito Disease Mitochondria Mitochondrial disease Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome Myoclonic Epilepsy with Ragged Red Fibers (MERRF) Leber Hereditary Optic Neuropathy (LHON) Leigh Syndrome Neuropathy, ataxia, and retinitis pigmentosa (NARP) Kearns Sayre syndrome Alpers Huttenlocher Pearson Mitochondrial Neurogastrointestinal Encephalopathy (MNGIE) Barth Syndrome Coenzyme Q (CoQ) Deficiency Chronic progressive external ophthalmoplegia (CPEO) DAD Diabetes and Deafness Encephalopathy Encephalomyopathy Familial Bilateral Striatal Necrosis (FBSN) Hepatocerebral Disease Leukoencephalopathy Maternally Inherited Leigh Syndrome (MILS) Complex I Deficiency Complex II Deficiency Complex III Deficiency Complex IV Deficiency Complex V Deficiency mitochondrial DNA depletion syndrome mtDNA depletion syndrome Disease Genetic Diseases, Inborn

Eligibility

You can join if…

  • 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.

You CAN'T join if...

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

Locations

  • University of California San Diego accepting new patients
    San Diego California 92103 United States
  • Lucile Packard Children's Hospital accepting new patients
    Stanford California 94305 United States

Lead Scientists

  • Robert Naviaux
    Research in my lab has focused on the role of mitochondria and metabolism in monogenic and complex disorders in children and adults.
  • Richard Haas
    Professor, Neurosciences. Authored (or co-authored) 34 research publications

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Columbia University
Links
Rare Disease Clinical Research Network NAMDC Home Page
ID
NCT01694940
Study Type
Observational
Last Updated