# The North American Mitochondrial Disease Consortium (NAMDC)

> **NIH NIH U54** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $1,658,316

## Abstract

A member of the Rare Diseases Clinical Research Network (RDCRN), the North American Mitochondrial
Disease Consortium (NAMDC) has established a network of 17 clinical centers with a mission to improve
the diagnosis and care, establish the natural history, support translational research, and investigate
treatment of mitochondrial diseases. Mitochondrial diseases are clinically and genetically
heterogeneous disorders due to primary mutations in mitochondrial DNA (mtDNA) or nuclear DNA
(nDNA). A consortium, acting in close collaboration with the key patient advocacy groups, including the
United Mitochondrial Disease Foundation (UMDF), provides an optimal approach to these complex
diseases. With support of an NIH American Recovery and Reinvestment Act (ARRA) grant and 7 years of
a U54 award, NAMDC has already generated produced a substantial research infrastructure: a powerful
Clinical Registry, a Biorepository, a website for education and recruitment of patients, and mitochondrial
disease Research Diagnostic Criteria, which provide an essential foundation for clinical projects and
trials. From this firm base, 19 productive patient-oriented projects have already sprouted, including: 4
natural history studies; 6 survey studies; and 9 pilot studies. The NAMDC training program has trained 5
clinician-investigators all of whom remain remarkably active in mitochondrial disease research. This
competitive renewal application proposes 5 major Research Projects and a new Career Enhancement
program which will expand and reap further rewards from the labor invested to date in NAMDC. The
Research Projects are: 1) An expansion of the NAMDC Clinical Registry/Longitudinal Study and
Biorepository with detailed analyses of at least 6 mitochondrial disorders and novel registry-based
natural history studies of at least 3 diseases; 2) Application of next-generation sequencing to identify
causative mutations in the ~40% of NAMDC Registry subjects whose diseases are genetically undefined
in collaboration with the Mitochondrial disease SEQuence Data Resource (MSeqDR); 3) Development
and utilization of new mitochondrial functional assays in tissues collected via minimally invasive
techniques; 4) Extension of an advanced genetics study of pyruvate dehydrogenase deficiency with
addition of an innovative biomarker newborn screening program and 5) A longitudinal expanded access
study of deoxynucleoside therapy for thymidine kinase 2 (TK2) deficiency. We propose to transform our
NAMDC Fellowship into a Career Enhancement program; to initiate new pilot studies; and to transition
NAMDC NIH financial support to a broader array of funding sources.

## Key facts

- **NIH application ID:** 10023958
- **Project number:** 5U54NS078059-10
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** MICHIO HIRANO
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $1,658,316
- **Award type:** 5
- **Project period:** 2011-09-30 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10023958

## Citation

> US National Institutes of Health, RePORTER application 10023958, The North American Mitochondrial Disease Consortium (NAMDC) (5U54NS078059-10). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10023958. Licensed CC0.

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