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Rosales et al. J Transl Genet Genom 2020;4:81-90 Journal of Translational
DOI: 10.20517/jtgg.2020.12 Genetics and Genomics

Original Article Open Access

The North American mitochondrial disease registry

Xiomara Q. Rosales , John L. P. Thompson , Richard Haas , Johan L. K. Van Hove , Amel Karaa , Danuta
2
4
5
3
1
Krotoski , Kristin Engelstad , Richard Buchsbaum , Salvatore DiMauro , Michio Hirano ; The North
1
6
1
1
2
American Mitochondrial Disease Consortium
1 Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA.
2 Department of Biostatistics, Mailman School of Public Health, Columbia University, New York, NY 10032, USA.
3 Departments of Neurosciences and Pediatrics, University of California at San Diego, San Diego, CA 92093, USA.
4 Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO 80045, USA.
5 Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.
6 Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD
20817, USA.
Correspondence to: Dr. Michio Hirano, Neurology Department, Columbia University Irving Medical Center, 630 West 168th
Street, P&S 4-423, New York, NY 10032, USA. E-mail: mh29@cumc.columbia.edu
How to cite this article: Rosales XQ, Thompson JLP, Haas R, Van Hove JLK, Karaa A, Krotoski D, Engelstad K, Buchsbaum R,
DiMauro S, Hirano M; The North American Mitochondrial Disease Consortium. The North American mitochondrial disease
registry. J Transl Genet Genom 2020;4:81-90. https://doi.org/10.20517/jtgg.2020.12
Received: 10 Feb 2020 First Decision: 2 Mar 2020 Revised: 7 Apr 2020 Accepted: 10 Apr 2020 Available online: 28 Apr 2020
Science Editor: Andrea L. Gropman Copy Editor: Jing-Wen Zhang Production Editor: Tian Zhang

Abstract
Aim: The North American Mitochondrial Disease Consortium (NAMDC) comprises a network of 17 clinical
centers with a mission to conduct translational research on mitochondrial diseases. NAMDC is a part of the
Rare Disease Clinical Research Network (RDCRN) and is funded by the National Institutes of Health. To foster its
mission, NAMDC has implemented a comprehensive Mitochondrial Disease Clinical Registry (hereafter NAMDC
Registry), collected biosamples deposited into the NAMDC Biorepository, defined phenotypes and genotypes of
specific disorders, collected natural history data, identified outcome measures, characterized safety and long-term
toxicity and efficacy of promising therapies, and trained young investigators interested in patient-oriented research
in mitochondrial disease.

Methods: Research conducted by NAMDC is built on the foundation of the Clinical Registry. Data within the
registry are encrypted and maintained in a centralized database at Columbia University Medical Center. In addition
to clinical data, NAMDC has established a mitochondrial disease biorepository, collecting DNA, plasma, cell, and
tissue samples. Specimens are assigned coded identifiers in compliance with all relevant regulatory entities and
with emerging NIH guidelines for biorepositories. NAMDC funds two pilot projects each year. Pilot grants are
small grants typically supporting an early stage concept to obtain preliminary data. Pilot grants must enhance
and address major issues in mitochondrial medicine and specific areas of need for the field and for the successful

© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0
International License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use,
sharing, adaptation, distribution and reproduction in any medium or format, for any purpose, even commercially, as long
as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license,
and indicate if changes were made.

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