# NAMDC Clinical Registry/Longitudinal Study and Biorepository

> **NIH NIH U54** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2020 · $351,140

## Abstract

To collect information about the wide spectrum of mitochondrial diseases, NAMDC has
designed and implemented a comprehensive NAMDC Mitochondrial Disease Clinical Registry,
which gathers baseline clinical, biochemical, and molecular genetic data as well as tracks the
natural histories of the patients through the NAMDC Clinical Longitudinal study. The overall
missions of the NAMDC Registry are to: better understand the phenotypes of mitochondrial
diseases; enable genotype/phenotype correlations; facilitate enrollment into clinical studies
under NAMDC and other entities; and characterize natural histories of select mitochondrial
diseases. More than 1,379 patients have been enrolled across 17 NAMDC sites in collaboration
with the United Mitochondrial Disease Foundation (UMDF). New features added to the Registry
include a Remote Recruitment program and a data mining tool for NAMDC investigators. We
have also created NAMDC Research Diagnostic Criteria for mitochondrial diseases with strict
benchmarks for definite, suspected, or unlikely levels of diagnoses. Samples of blood, urine,
and other tissues are being deposited into the NAMDC Biorepository housed at the Mayo Clinic.
The NAMDC Clinical Registry, Research Diagnostic Criteria, and Biorepository are three pillars
that form a strong foundation for multi-center collaborative mitochondrial disease research.
From this firm base, productive patient-oriented projects have already sprouted: a review of the
NAMDC Registry data; 4 natural history studies (pyruvate dehydrogenase complex (PDC)
deficiency, mitochondrial neurogastroIntestinal encephalomyopathy, Alpers syndrome, and
Pearson syndrome); 6 survey studies; and 9 pilot studies. This project seeks: to expand the
NAMDC Clinical Registry and Biorepository; to apply and refine the NAMDC Research
Diagnostic Criteria; to characterize at least 6 specific mitochondrial conditions; to continue the
Clinical Longitudinal study; to develop novel NAMDC Registry-wide natural history studies; to
provide material for genomic testing of molecularly undefined NAMDC Registry subjects (Project
2); to strengthen links to mitochondrial disease sequence data resource (MSeqDR) consortium;
to support development and utilization of new mitochondrial functional assays (Project 3); to
support the advanced genetic and newborn screening studies of PDC deficiencies (Project 4);
and to identify patients for the expanded access study of deoxynucleoside therapy for thymidine
kinase 2 deficiency (Project 5).

## Key facts

- **NIH application ID:** 10023966
- **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:** $351,140
- **Award type:** 5
- **Project period:** 2011-09-30 → 2024-08-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10023966

## Citation

> US National Institutes of Health, RePORTER application 10023966, NAMDC Clinical Registry/Longitudinal Study and Biorepository (5U54NS078059-10). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10023966. Licensed CC0.

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