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

This study is currently recruiting participants.
Verified August 2017 by Michio Hirano, Columbia University
Sponsor:
ClinicalTrials.gov Identifier:
NCT01694940
First Posted: September 27, 2012
Last Update Posted: August 23, 2017
The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
Collaborator:
National Institute of Neurological Disorders and Stroke (NINDS)
Information provided by (Responsible Party):
Michio Hirano, Columbia University
  Purpose
The North American Mitochondrial Disease Consortium (NAMDC) maintains a patient contact registry and tissue biorepository for patients with mitochondrial disorders.

Condition
Mitochondrial Disorders Mitochondrial Genetic Disorders Mitochondrial Diseases Disorder of Mitochondrial Respiratory Chain Complexes Deletion and Duplication of Mitochondrial DNA

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)

Resource links provided by NLM:


Further study details as provided by Michio Hirano, Columbia University:

Primary Outcome Measures:
  • There is no primary outcome measure for this study [ Time Frame: end of study ]
    This is a registry protocol and therefore there is no primary outcome measure for this study.


Biospecimen Retention:   Samples With DNA
Any type of tissue sample can be stored in the biorepository.

Estimated Enrollment: 1000
Study Start Date: December 2010
Estimated Study Completion Date: December 2025
Estimated Primary Completion Date: December 2025 (Final data collection date for primary outcome measure)
Groups/Cohorts
Mitochondrial Disease Patients
Patients with possible or known mitochondrial disorders. Patients who are known carriers of mitochondrial or nuclear DNA mutations involved in mitochondrial function.

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.

  Eligibility

Information from the National Library of Medicine

Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies.


Ages Eligible for Study:   Child, Adult, Senior
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Patients with known mitochondrial disorders. People at risk of carrying a mitochondrial DNA mutation Patients with abnormal mitochondrial function
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.
  Contacts and Locations
Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT01694940


Contacts
Contact: Michio Hirano, MD 12123051048 NAMDC@columbia.edu
Contact: Kristin Engelstad, MS 12123056834 NAMDC@columbia.edu

Locations
United States, California
University of California San Diego Recruiting
San Diego, California, United States, 92103
Contact: Richard Hass, MD    858-822-6700    rhass@ucsd.edu   
Contact: Robert Naviaux, MD    16195432904    naviaux@ucsd.edu   
Principal Investigator: Robert Naviaux, MD         
Principal Investigator: Richard Haas, MD PhD         
Lucile Packard Children's Hospital Recruiting
Stanford, California, United States, 94305
Contact: Gregory Enns, MD    650-723-6858      
Principal Investigator: Gregory Enns, MD         
United States, Colorado
Children's Hospital of Colorado Recruiting
Aurora, Colorado, United States, 80045
Contact: Johan Van Hove, MD PhD MBA    303-724-2351      
Contact: Abigail Collins, MD    7207776895    abibail.collins@ucdenver.edu   
Principal Investigator: Johan Van Hove, MD PhD MBA         
Principal Investigator: Abigail Collins, MD         
United States, District of Columbia
Children's National Medical Center Recruiting
Washington, D.C., District of Columbia, United States, 20010
Contact: Andrea Gropman, MD    202-476-3511    agropman@cnmc.org   
Principal Investigator: Andrea Gropman, MD         
United States, Florida
University of Florida Recruiting
Gainesville, Florida, United States, 32610
Contact: Peter Stacpole, MD    352-265-8909    stacpool@gcrc.ufl.edu   
Principal Investigator: Peter Stacpole, MD         
United States, Massachusetts
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Amel Karaa, MD    617-355-6117    akaraa@partners.org   
Principal Investigator: Amel Karaa, MD         
United States, Minnesota
Mayo Clinic Recruiting
Rochester, Minnesota, United States, 55902
Contact: Ralitza Garivolova, MD    507-284-2511    gavrilova.ralitza@mayo.edu   
Principal Investigator: Ralitza Gavrilova, MD         
United States, New York
Columbia University Medical Center Recruiting
New York, New York, United States, 10032
Contact: Michio Hirano, MD    212-305-1048    namdc@columbia.edu   
Contact: Salvatore DiMauro, MD         
Principal Investigator: Michio Hirano, MD         
Principal Investigator: Salvatore Dimauro, MD         
Virtual Site (Remote enrollment) Recruiting
New York, New York, United States, 10032
Contact: Xiomara Q Rosales, MD    212-342-2336    xr2126@cumc.columbia.edu   
Contact: Kristin Engelstad, MS    2123056834    ke4@columbia.edu   
Sub-Investigator: Xiomara Q Rosales, MD         
United States, Ohio
Akron Children's Hospital Recruiting
Akron, Ohio, United States, 44308
Contact: Bruce Cohen, MD    330-543-6048    bcohen@chmca.org   
Principal Investigator: Bruce Cohen, MD         
Case Western Reserve University Recruiting
Cleveland, Ohio, United States, 44106
Contact: Charles Hoppel, MD    216-368-3147    charles.hoppel@case.edu   
Contact: Douglas Kerr, MD    12168443661    douglas.kerr@case.edu   
Principal Investigator: Charles Hoppel, MD         
Principal Investigator: Douglas Kerr, MD PhD         
Cleveland Clinic Recruiting
Cleveland, Ohio, United States, 44195
Contact: Sumit Parikh, MD    216-444-1994    parikhs@ccf.org   
Principal Investigator: Sumit Parikh, MD         
United States, Pennsylvania
The Children's Hospital of Philadelphia Recruiting
Philadelphia, Pennsylvania, United States, 19104
Contact: Marni J Falk, MD    215-590-4564    falkm@email.chop.edu   
Principal Investigator: Marni J Falk, MD         
Children's Hospital of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15224
Contact: Amy Goldstein, MD    412-692-5520      
Principal Investigator: Amy Goldstein, MD         
United States, Texas
Baylor College of Medicine Recruiting
Houston, Texas, United States, 77030
Contact: William Craigen, MD    713-798-8305    wcraigen@bcm.edu   
Contact: Fernando Scaglia, MD    18328224280    fscaglia@bcm.tmc.edu   
Principal Investigator: William Craigen, MD         
Principal Investigator: Fernando Scaglia, MD         
United States, Washington
Seattle Children's Hospital and Regional Medical Center Recruiting
Seattle, Washington, United States, 98105
Contact: Russell Saneto, MD    206-987-2100 ext 4017    russ.saneto@seattlechildrens.org   
Principal Investigator: Russell Saneto, DO PhD         
Canada, Ontario
McMaster University Recruiting
Hamilton, Ontario, Canada, ON L8N 3Z5
Contact: Mark Tarnopolsky, MD    19055212100 ext 75226    tarnopol@univmail.cis.mcmaster.ca   
Principal Investigator: Mark Tarnopolsky, MD         
Sponsors and Collaborators
Columbia University
National Institute of Neurological Disorders and Stroke (NINDS)
Investigators
Study Director: Michio Hirano, MD Columbia University
  More Information

Additional Information:
Responsible Party: Michio Hirano, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01694940     History of Changes
Other Study ID Numbers: AAAF4597
U54NS078059 ( U.S. NIH Grant/Contract )
First Submitted: September 25, 2012
First Posted: September 27, 2012
Last Update Posted: August 23, 2017
Last Verified: August 2017
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: Yes
Plan Description: Anonymized participant data is available upon request and approval by the NAMDC Data Use Committee.

Keywords provided by Michio Hirano, Columbia University:
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) Syndrome
Myoclonic Epilepsy with Ragged Red Fibers (MERRF)
mitochondrial disorders
Mito Disease
Mitochondria
Mitochondrial disease
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

Additional relevant MeSH terms:
Disease
Mitochondrial Diseases
Genetic Diseases, Inborn
Pathologic Processes
Metabolic Diseases