To collect information about the wide spectrum of mitochondrial diseases, NAMDC has designed and implemented a comprehensive 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 Clinical Registry are to: better understand the spectrum and overlap of phenotypes for specific mitochondrial diseases;enable genotype/phenotype correlations;facilitate enrollment into clinical studies under NAMDC arid other entities; and characterize the natural histories of mitochondrial diseases. More than 425 patients have been enrolled across 13 NAMDC sites in collaboration with the United Mitochondrial Disease Foundation (UMDF). We have also created NAMDC Research Diagnostic Criteria for mitochondrial diseases with strict benchmarks for definite, probable, possible, or unlikely levels of diagnoses. Samples of blood, skin, and other tissues are being deposited into the NAMDC Biorepository housed at the Mayo Clinic under the direction of Dr. Devin Oglesbee. 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;natural history studies on mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), Alpers disease, and Pearson syndrome have been initiated by NAMDC site investigators. This project seeks: to expand the NAMDC Clinical Registry and Biorepository;to continue to on-going natural history studies including the Clinical Longitudinal study, to apply and refine the NAMDC Research Diagnostic Criteria;to support the MNGIE AHSCT Safety Study (MASS, Project 2);to strengthen links to mitochondrial disease sequence data resource (MSeqDR) consortium;and to support new research projects including the """"""""Natural History and Advanced Genetic Studies of PDC Deficiency"""""""" (Project 3);and the studies of nutritional supplements for mitochondrial diseases.

Public Health Relevance

To advance mitochondrial disease research, a Clinical Registry is essential to collect baseline information and natural histories while a Biorespository is an important research resource for investigators. The Clinical Registry will collect longitudinal data across the spectrum of mitochondrial diseases while continuing focused natural history studies of 3 mitochondrial disorders and supporting new projects.

National Institute of Health (NIH)
National Institute of Neurological Disorders and Stroke (NINDS)
Specialized Center--Cooperative Agreements (U54)
Project #
Application #
Study Section
Special Emphasis Panel (ZTR1)
Program Officer
Gwinn, Katrina
Project Start
Project End
Budget Start
Budget End
Support Year
Fiscal Year
Total Cost
Indirect Cost
Columbia University (N.Y.)
New York
United States
Zip Code
Merkel, Peter A; Manion, Michele; Gopal-Srivastava, Rashmi et al. (2016) The partnership of patient advocacy groups and clinical investigators in the rare diseases clinical research network. Orphanet J Rare Dis 11:66
Shen, Lishuang; Diroma, Maria Angela; Gonzalez, Michael et al. (2016) MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease. Hum Mutat 37:540-8
Engelstad, Kristin; Sklerov, Miriam; Kriger, Joshua et al. (2016) Attitudes toward prevention of mtDNA-related diseases through oocyte mitochondrial replacement therapy. Hum Reprod 31:1058-65
Karaa, Amel; Kriger, Joshua; Grier, Johnston et al. (2016) Mitochondrial disease patients' perception of dietary supplements' use. Mol Genet Metab 119:100-8
Marin, Samantha E; Saneto, Russell P (2016) Neuropsychiatric Features in Primary Mitochondrial Disease. Neurol Clin 34:247-94
Al-Mehmadi, Sameer; Splitt, Miranda; For DDD Study group* et al. (2016) FHF1 (FGF12) epileptic encephalopathy. Neurol Genet 2:e115
Huang, Xiaoping; Bedoyan, Jirair K; Demirbas, Didem et al. (2016) Succinyl-CoA synthetase (SUCLA2) deficiency in two siblings with impaired activity of other mitochondrial oxidative enzymes in skeletal muscle without mitochondrial DNA depletion. Mol Genet Metab :
Saneto, Russell P (2016) Alpers-Huttenlocher syndrome: the role of a multidisciplinary health care team. J Multidiscip Healthc 9:323-33
Torres-Torronteras, Javier; Cabrera-Pérez, Raquel; Barba, Ignasi et al. (2016) Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy. Hum Gene Ther 27:656-67
Servián-Morilla, Emilia; Takeuchi, Hideyuki; Lee, Tom V et al. (2016) A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Mol Med 8:1289-1309

Showing the most recent 10 out of 38 publications