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METHODS
NAMDC registry
To collect information about the wide spectrum of mitochondrial diseases, NAMDC has designed and
implemented a comprehensive NAMDC Mitochondrial Disease Clinical Registry that gathers baseline
clinical, biochemical, and molecular genetic data and tracks the natural histories of the patients through the
NAMDC Clinical Longitudinal study. All data in the NAMDC Registry are handled in a strictly confidential
manner. All data are stored in encrypted databases, and all communications of data are password-protected
and encrypted. Patient identifiers are stored separately from clinical data and are made available only to
authorized users.

Patient enrollment may occur in person at one of the NAMDC member sites or through the Remote
Recruitment program streamlined through the NAMDC Clinical Coordinating Center at Columbia
University. The web-based remote enrollment (www.namdc.org) provides a patient-friendly platform that
includes passcode access, online screening, electronic consent, and data capture for enrollment of eligible
patients who reside far from any of the NAMDC participating sites and/or have difficulties traveling to the
sites due to their disabilities.

The NAMDC Clinical Registry is also the base for developing the NAMDC Clinical Registry/Longitudinal
Study to collect natural history data across the spectrum of mitochondrial diseases.

NAMDC research diagnostic criteria
Because of the vast clinical and genetic heterogeneity of mitochondrial diseases, diagnosing these disorders
is challenging, but critical to assess the natural histories, define prognoses, study pathogenic mechanisms,
and develop clinical trials. To facilitate accuracy and uniformity of the diagnosis of mitochondrial disease,
NAMDC investigators in various disciplines including Neurology, Internal Medicine, Pediatrics, Pathology,
Clinical Genetics, Clinical Laboratory Medicine, and Biostatistics, have generated NAMDC Research
Diagnostic Criteria for mitochondrial diseases with strict benchmarks for definite, suspected, or unlikely
levels of diagnoses. Data derived from the registry have been the source for the development and refinement
of the diagnostic criteria, which are being applied on a research basis to classify patients in the NAMDC
Registry. The NAMDC research diagnostic criteria are outlined in a separate report that is currently in
preparation for publication.

NAMDC biorepository
At the time of consent into the NAMDC Patient Registry, patients are provided with the opportunity to
submit samples to the NAMDC Biorepository. Samples of blood, urine, and other tissues are then collected
and deposited into the NAMDC Biorepository. The NAMDC Biorepository is located at the Mayo Clinic
Biospecimens Accessioning and Processing (BAP) Core in Rochester, Minnesota. Participation in the
Biorepository is optional.

The NAMDC Clinical Registry, Research Diagnostic Criteria, and Biorepository are three pillars that form
a strong foundation for multi-center collaborative mitochondrial disease research. The NAMDC registry
includes a data-mining tool to facilitate access to de-identified data among NAMDC investigators as well as a
consortium-style Master Service Agreement that allows transfer of de-identified biosamples among NAMDC
sites, and to other external entities upon the appropriate approval.

NAMDC pilot program
The Pilot Project Program is an important component of NAMDC, and supports 1-2 pilot projects annually.
NAMDC pilot projects focus on biomarkers, diagnosis, natural history, and treatment of mitochondrial
diseases. Thus, projects must be human subject studies, i.e., include patients, human cells, tissues, or body