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registry, expanded the NAMDC Biorepository, plans to implement a registry-wide Natural History study
for more common mitochondrial disorders, continues support of pilot projects, and plans to expand the
career enhancement program to train new mitochondrial disease investigators. Furthermore, NAMDC
plans to collaborate in the international data-harmonization efforts aiming to provide users with access to
a comparable view of data from global mitochondrial registries. As NIH funding of projects has a finite
lifespan, NAMDC leadership is implementing innovative and cost-effective alternatives such as remote
enrollment and is assembling a patchwork of funding sources by ensuring industrial support and strategic
collaboration with the UMDF non-for-profit enterprise. Through this approach, NAMDC aims to build a
critical infrastructure and performance level to support a resource-efficient and sustainable plan for future
mitochondrial disease research in North America and in collaboration with international partners.

DECLARATIONS
Acknowledgments
We thank contributors who collected data/samples used in this study, as well as patients and their families,
whose help and participation made this work possible. The North American Mitochondrial Disease
Consortium (NAMDC) is part of Rare Diseases Clinical Research Network (RDCRN), an initiative of
the Office of Rare Diseases Research (ORDR), NCATS. This consortium is funded through collaboration
between NCATS, and NIH grant 5U54NS078059.

Authors’ contributions
Provided participant data, data analysis, regulatory compliance, manuscript preparation, communication
among centers, and study design and implementation: Rosales XQ
Statistical analysis, study design and implementation, and manuscript preparation: Thompson JLP
Provided participant data and directed career enhancement program: Haas R
Provided participant data and directed the pilot project program: Van Hove JLK
Provided participant data and directed the new projects program: Karaa A
Critical data review: Krotoski D
Provided participant data: Engelstad K
Database curation and data set preparation: Buchsbaum R
Data analysis, study design, and critical data review: DiMauro S
Data analysis, manuscript preparation, communication among centers, study design and implementation,
and critical data review: Hirano M

Availability of data and materials
NAMDC sends Registry data to the RDCRN annually to be made available to qualified researchers through a
controlled-access public website such as the database of Genotypes and Phenotypes (dbGAP) as required by
the federal funding agency.

Financial support and sponsorship
This work is supported by grant U54NS078059 from the National Institute of Health. Additional funding
is provided by the UMDF to support the Career Enhancement Program and salary support for program
management in the Administrative Core.

Conflicts of interest
All authors declared that there are no conflicts of interest.

Ethical approval and consent to participate
The Columbia University Institutional Review Board (CU CIRB) has been designated as the central IRB for
the NAMDC Consortium. The CU CIRB is responsible for the continuing review of all sites participating