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

Part of paid clinical trials in San Diego, California.

Sponsor: Columbia University
Study ID: NCT01694940
Status: Recruiting

Conditions

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

Eligibility Criteria

Sex: ALL
Age: N/A - N/A
Healthy Volunteers: Accepted

Study Details

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

Key Dates

Start date: Jan 31, 2011
Status verified: Feb 2026
Primary completion: Dec 31, 2026
Completion: Dec 31, 2026

Study Design

Enrollment: 1,000 participants (estimated)

Arms

Arm: 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

Michio Hirano, MD
12123051048
[email protected]
Kristin Engelstad, MS
12123056834
[email protected]

Locations (16)

Facility	City	State	ZIP	Site coordinators
University of California San Diego	San Diego	California	92103	Richard Hass, MD [email protected] 18588226700 Robert Naviaux, MD [email protected] 16195432904 Robert Naviaux, MD (PRINCIPAL_INVESTIGATOR) Richard Haas, MD PhD (PRINCIPAL_INVESTIGATOR)
Lucile Packard Children's Hospital	Stanford	California	94305	Gregory Enns, MD 1-650-723-6858 Gregory Enns, MD (PRINCIPAL_INVESTIGATOR)
Children's Hospital of Colorado	Aurora	Colorado	80045	Johan Van Hove, MD PhD MBA 3037242351 Abigail Collins, MD [email protected] 7207776895 Johan Van Hove, MD PhD MBA (PRINCIPAL_INVESTIGATOR) Abigail Collins, MD (PRINCIPAL_INVESTIGATOR)
Children's National Medical Center	Washington D.C.	District of Columbia	20010	Andrea Gropman, MD [email protected] 202-476-3511 Andrea Gropman, MD (PRINCIPAL_INVESTIGATOR)
University of Florida	Gainsville	Florida	32610	Peter Stacpole, MD [email protected] 13522658909 Peter Stacpole, MD (PRINCIPAL_INVESTIGATOR)
Massachusetts General Hospital	Boston	Massachusetts	02115	Amel Karaa, MD [email protected] 6173556117 Amel Karaa, MD (PRINCIPAL_INVESTIGATOR)
Mayo Clinic	Rochester	Minnesota	55902	Ralitza Garivolova, MD [email protected] 15072842511 Ralitza Gavrilova, MD (PRINCIPAL_INVESTIGATOR)
Columbia University Medical Center	New York	New York	10032	Michio Hirano, MD [email protected] 2123051048 Michio Hirano, MD (PRINCIPAL_INVESTIGATOR)
Virtual Site (Remote enrollment)	New York	New York	10032	Kristin T Engelstad [email protected] 2123056834
Akron Children's Hospital	Akron	Ohio	44308	Bruce Cohen, MD [email protected] 13305436048 Bruce Cohen, MD (PRINCIPAL_INVESTIGATOR)
Cleveland Clinic	Cleveland	Ohio	44195	Sumit Parikh, MD [email protected] 12164441994 Sumit Parikh, MD (PRINCIPAL_INVESTIGATOR)
Case Western Reserve University	Clevland	Ohio	44106	Charles Hoppel, MD [email protected] 12163683147 Douglas Kerr, MD [email protected] 12168443661 Charles Hoppel, MD (PRINCIPAL_INVESTIGATOR) Douglas Kerr, MD PhD (PRINCIPAL_INVESTIGATOR)
The Children's Hospital of Philadelphia	Philadelphia	Pennsylvania	19104	Marni J Falk, MD [email protected] 2155904564 Marni J Falk, MD (PRINCIPAL_INVESTIGATOR)
Children's Hospital of Pittsburgh	Pittsburgh	Pennsylvania	15224	Amy Goldstein, MD 1-412-692-5520 Amy Goldstein, MD (PRINCIPAL_INVESTIGATOR)
Baylor College of Medicine	Houston	Texas	77030	William Craigen, MD [email protected] 17137988305 Fernando Scaglia, MD [email protected] 18328224280 William Craigen, MD (PRINCIPAL_INVESTIGATOR) Fernando Scaglia, MD (PRINCIPAL_INVESTIGATOR)
Seattle Children's Hospital and Regional Medical Center	Seattle	Washington	98105	Russell Saneto, MD [email protected] 12069872100 Russell Saneto, DO PhD (PRINCIPAL_INVESTIGATOR)

Find similar trials in San Diego, CA

By research site

University of California San Diego· San Diego, CA Lucile Packard Children's Hospital· Stanford, CA Children's Hospital of Colorado· Aurora, CO Children's National Medical Center· Washington D.C., DC University of Florida· Gainsville, FL Massachusetts General Hospital· Boston, MA

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