Recruiting

Observational Study

Sponsor:

Columbia University

Code:

NCT01694940

Conditions

Mitochondrial Disorders

Mitochondrial Genetic Disorders

Mitochondrial Diseases

Disorder of Mitochondrial Respiratory Chain Complexes

Deletion and Duplication of Mitochondrial DNA

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

Study Details

Brief summary:

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

Conditions

Mitochondrial Disorders

Mitochondrial Genetic Disorders

Mitochondrial Diseases

Disorder of Mitochondrial Respiratory Chain Complexes

Deletion and Duplication of Mitochondrial DNA

Study ID

NCT01694940

Start date

Jan 31, 2011

Status verified date

Feb, 2026

Completion date

Dec 31, 2026

Anticipated

Primary completion date

Dec 31, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 0+

Healthy Volunteers: Accepted

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.

Study Design

Enrollment

1000 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • There is no primary outcome measure for this study [ Time Frame: end of study ]

Central Contacts and Locations

Central contacts

Michio Hirano, MD

12123051048NAMDC@columbia.edu

Kristin Engelstad, MS

12123056834NAMDC@columbia.edu

Locations

University of California San Diego

Recruiting

San Diego, California, United States, 92103

Contacts

Richard Hass, MD

18588226700rhass@ucsd.edu

Robert Naviaux, MD

16195432904naviaux@ucsd.edu

Principal Investigator:

Robert Naviaux, MD

Lucile Packard Children's Hospital

Recruiting

Stanford, California, United States, 94305

Contacts

Gregory Enns, MD

1-650-723-6858

Principal Investigator:

Gregory Enns, MD

Children's Hospital of Colorado

Recruiting

Aurora, Colorado, United States, 80045

Contacts

Johan Van Hove, MD PhD MBA

3037242351

Abigail Collins, MD

7207776895abibail.collins@ucdenver.edu

Principal Investigator:

Johan Van Hove, MD PhD MBA

Children's National Medical Center

Recruiting

Washington D.C., District of Columbia, United States, 20010

Contacts

Andrea Gropman, MD

202-476-3511agropman@cnmc.org

Principal Investigator:

Andrea Gropman, MD

University of Florida

Recruiting

Gainsville, Florida, United States, 32610

Contacts

Peter Stacpole, MD

13522658909stacpool@gcrc.ufl.edu

Principal Investigator:

Peter Stacpole, MD

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02115

Contacts

Amel Karaa, MD

6173556117akaraa@partners.org

Principal Investigator:

Amel Karaa, MD

Mayo Clinic

Recruiting

Rochester, Minnesota, United States, 55902

Contacts

Ralitza Garivolova, MD

15072842511gavrilova.ralitza@mayo.edu

Principal Investigator:

Ralitza Gavrilova, MD

Columbia University Medical Center

Recruiting

New York, New York, United States, 10032

Contacts

Michio Hirano, MD

2123051048namdc@columbia.edu

Principal Investigator:

Michio Hirano, MD

Virtual Site (Remote enrollment)

Recruiting

New York, New York, United States, 10032

Contacts

Kristin T Engelstad

2123056834namdc@columbia.edu

Akron Children's Hospital

Recruiting

Akron, Ohio, United States, 44308

Contacts

Bruce Cohen, MD

13305436048bcohen@chmca.org

Principal Investigator:

Bruce Cohen, MD

Cleveland Clinic

Recruiting

Cleveland, Ohio, United States, 44195

Contacts

Sumit Parikh, MD

12164441994parikhs@ccf.org

Principal Investigator:

Sumit Parikh, MD

Case Western Reserve University

Recruiting

Clevland, Ohio, United States, 44106

Contacts

Charles Hoppel, MD

12163683147charles.hoppel@case.edu

Douglas Kerr, MD

12168443661douglas.kerr@case.edu

Principal Investigator:

Charles Hoppel, MD

The Children's Hospital of Philadelphia

Recruiting

Philadelphia, Pennsylvania, United States, 19104

Contacts

Marni J Falk, MD

2155904564falkm@email.chop.edu

Principal Investigator:

Marni J Falk, MD

Children's Hospital of Pittsburgh

Recruiting

Pittsburgh, Pennsylvania, United States, 15224

Contacts

Amy Goldstein, MD

1-412-692-5520

Principal Investigator:

Amy Goldstein, MD

Baylor College of Medicine

Recruiting

Houston, Texas, United States, 77030

Contacts

William Craigen, MD

17137988305wcraigen@bcm.edu

Fernando Scaglia, MD

18328224280fscaglia@bcm.tmc.edu

Principal Investigator:

William Craigen, MD

Seattle Children's Hospital and Regional Medical Center

Recruiting

Seattle, Washington, United States, 98105

Contacts

Russell Saneto, MD

12069872100russ.saneto@seattlechildrens.org

Principal Investigator:

Russell Saneto, DO PhD

McMaster University

Recruiting

Hamilton, Ontario, Canada, ON L8N 3Z5

Contacts

Mark Tarnopolsky, MD

19055212100tarnopol@univmail.cis.mcmaster.ca

Principal Investigator:

Mark Tarnopolsky, MD

More Information

Sponsor

Columbia University

Last update posted

Feb 4, 2026

Last verified

Feb, 2026

Keywords

  • mitochondrial disorders
  • 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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Columbia University on 2026-02-04.