Page 68 - Read Online

Page 86 Rosales et al. J Transl Genet Genom 2020;4:81-90 I https://doi.org/10.20517/jtgg.2020.12

and present their work to the Site Directors.

NAMDC administrative core
The Administrative Core of NAMDC provides critical organizational and strategic support to assure the
overall success of the Program in accordance with NIH RDCRN program objectives. As the central hub and
coordinating center for all NAMDC projects, the Administrative Core manages the interactions between
multiple academic departments and between the Consortium and external organizations and institutions.
The Core has an Overall Program Director/Principal Investigator, a Statistical Principal Investigator, a
Clinical Team Liaison, a Bioinformatician, and an Administrative Coordinator, with ultimate responsibility
for the Program’s scientific, clinical research, and training/educational operations. The NAMDC Executive
Committee (EC) consists of these individuals plus the Chairs of the seven NAMDC Standing Committees
(Data Use Committee, Biorepository Committee, Career Enhancement Program Committee, Pilot/New
Project Program Committee, Publications Committee, Website Committee, and Diagnostic Committee),
two NIH Representatives, and one Patient Advocacy Group representative. The EC meets regularly to assess
the progress of NAMDC programs (protocols, initiatives, etc.), set the long-term strategic goals for the
Consortium, and define the terms and rules by which the Consortium interacts with outside entities (Patient
Advocacy Groups, non-NAMDC researchers, industry, etc.).

The Administrative Core also maintains three independent websites: (1) an internal website to manage
internal documents and communications with NAMDC sites; (2) a patient remote enrollment website (www.
namdc.org) recently expanded for remote enrollment in Latin America (www.namdc.org/sp); and (3) an
external website coordinated with RDCRN to publicly communicate NAMDC’s mission and the availability
of training opportunities and core services (https://www.rarediseasesnetwork.org/cms/namdc/).

RESULTS
NAMDC clinical registry and biorepository
NAMDC is part of the Rare Diseases Clinical Research Network (RDCRN) funded by the National Institute
of Health (NIH U54NS078059). NAMDC has established a network of 17 clinical centers of excellence to
improve the diagnosis, natural history, and treatment of mitochondrial diseases [Figure 1]. NAMDC sites’
enrollment of mitochondrial disease patients is progressing steadily with more than 1600 patients enrolled to
date [Figure 2]. The proportion of female participants in the registry population is 14.6% higher than male
population and there is a notable under-representation of certain patient groups - individuals over age 65
year comprise only 3% and African American subjects represent only 2.4% (see Supplementary Materials).
To enhance recruitment, the NAMDC Central Coordinating Center has also implemented a remote patient
recruitment system which has been successfully enrolling domestic and international patients since 2018.
Data from the NAMDC Clinical Registry [Table 1] have been analyzed, and and published in the journal of
[1]
Neurology Genetics (Barca et al. 2020). A data-mining tool has been programmed to allow NAMDC site
investigators to perform data queries for internal use. NAMDC is expanding the Registry to collect natural
history data on all enrolled patients with select diseases. Additionally, the NAMDC Biorepository currently
holds more than 330 biological samples as well as a virtual fibroblast of 185 cell lines. A Central IRB at
Columbia University Medical Center has been established for this program.

NAMDC pilot program
To date, nine pilot projects have been awarded. Some of them have been completed and published [1-4] , and
others are in progress. The awarded projects focus on development of biomarkers, improving diagnostic
tools, characterizing natural history, and testing therapies for mitochondrial diseases [Table 2].

The NAMDC career enhancement program
The NAMDC Fellowship program has been highly successful with monthly webinar meetings and didactic
training of six fellows. The first three trainees who completed the program have obtained faculty positions