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

This study is currently recruiting participants. (see Contacts and Locations)
Verified November 2013 by Columbia University
Sponsor:
Information provided by (Responsible Party):
Michio Hirano, Columbia University
ClinicalTrials.gov Identifier:
NCT01694940
First received: September 25, 2012
Last updated: November 18, 2013
Last verified: November 2013
  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 Columbia University:

Primary Outcome Measures:
  • There is no primary outcome measure for this study [ Time Frame: end of study ] [ Designated as safety issue: No ]
    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.

  Eligibility

Genders Eligible for Study:   Both
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
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, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01694940

Contacts
Contact: Michio Hirano, MD 12123051048 NAMDC@columbia.edu
Contact: Johnston Grier 12123423671 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 DC, 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
Gainsville, Florida, United States, 32610
Contact: Peter Stacpole, MD    352-265-8909    stacpool@gcrc.ufl.edu   
Principal Investigator: Peter Stacpole, MD         
United States, Massachusetts
Children's Hospital Boston Recruiting
Boston, Massachusetts, United States, 02115
Contact: Amel Karaa, MD    617-355-6117    akaraa@partners.org   
Contact: Katherine Sims, MD    6177265732    ksims@partners.org   
Principal Investigator: Amel Karaa, MD         
Principal Investigator: Katherine Sims, 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
Buffalo General Hospital Recruiting
Buffalo, New York, United States, 14203
Contact: Georgirene VLadutiu, PhD    716-859-7741    gdv@buffalo.edu   
Principal Investigator: Georgirene Vladutiu, PhD         
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         
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
Clevland, 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         
Clevland Clinic Recruiting
Clevland, 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
University of Texas Southwestern Medical School Recruiting
Dallas, Texas, United States, 75231
Contact: Ronald Haller, MD    214-345-4617    rhaller2@earthlink.net   
Contact: Juan Pascual, MD PhD    12146485818    juan.pascual@UTsouthwestern.edu   
Principal Investigator: Ronald Haller, MD         
Principal Investigator: Juan Pascual, MD PhD         
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
Investigators
Study Director: Michio Hirano, MD Columbia University
  More Information

Additional Information:
No publications provided

Responsible Party: Michio Hirano, Professor of Neurology, Columbia University
ClinicalTrials.gov Identifier: NCT01694940     History of Changes
Other Study ID Numbers: AAAF4597
Study First Received: September 25, 2012
Last Updated: November 18, 2013
Health Authority: United States: Institutional Review Board

Keywords provided by Columbia University:
mitochondrial disorders
Mito Disease
Mitochondrial disease
Leigh Syndrome
Leighs
Hepatocerebral Disease
Mitochondria
MELAS
MERRF
LHON
NARP
Kearns Sayer
CPEO
Alpers
Pearson
MEMSA
Barth Syndrome
CoQ Deficiency
DAD
Diabetes and Deafness
Encephalopathy
Encephalomyopathy
FBSN
Leukoencephalopathy
MILS
Complex I Deficiency
Complex II Deficiency
Complex III Deficiency
Complex IV Deficiency
Complex V Deficiency

Additional relevant MeSH terms:
Disease
Mitochondrial Diseases
Pathologic Processes
Metabolic Diseases

ClinicalTrials.gov processed this record on October 01, 2014