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Reynolds E, Byrne M, Ganetzky R, et al. Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes. Mol Genet Metab. 2021;134(4):301-308doi: 10.1016/j.ymgme.2021.11.004.
Reynolds, E., Byrne, M., Ganetzky, R., & Parikh, S. (2021). Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes. Molecular genetics and metabolism, 134(4), 301-308. https://doi.org/10.1016/j.ymgme.2021.11.004
Reynolds, Elizabeth, et al. "Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes." Molecular genetics and metabolism vol. 134,4 (2021): 301-308. doi: https://doi.org/10.1016/j.ymgme.2021.11.004
Reynolds E, Byrne M, Ganetzky R, Parikh S. Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes. Mol Genet Metab. 2021 Dec;134(4):301-308. doi: 10.1016/j.ymgme.2021.11.004. Epub 2021 Nov 14. PMID: 34862134.
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Mol Genet Metab. 2021 Dec;134(4):301-308. doi: 10.1016/j.ymgme.2021.11.004. Epub 2021 Nov 14.

Pediatric single large-scale mtDNA deletion syndromes: The power of patient reported outcomes.

Molecular genetics and metabolism

Elizabeth Reynolds, Matthew Byrne, Rebecca Ganetzky, Sumit Parikh

Affiliations

  1. The Champ Foundation, 4711 Hope Valley Road 4F PMB 1171, Durham, NC 27707, United States of America. Electronic address: [email protected].
  2. University of Cincinnati College of Medicine, 3230 Eden Ave, Cincinnati, OH 45267, United States of America.
  3. Department of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, 3400 Civic Center Blvd, Philadelphia, PA 19104, United States of America; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Children's Hospital of Philadelphia, 3401 Civic Center Blvd, Philadelphia, PA 19104, United States of America. Electronic address: [email protected].
  4. Mitochondrial Medicine Center, Neurosciences Institute, 9500 Euclid Avenue Cleveland, OH 44195, United States of America. Electronic address: [email protected].

PMID: 34862134 DOI: 10.1016/j.ymgme.2021.11.004

Abstract

There is a limited understanding of system-level clinical outcomes and interventions associated with single large-scale mitochondrial DNA deletion syndromes (SLSMDS). Additionally, no research exists that describes patient reported outcomes (PROs) of children with SLSMDS. A global and observational registry was established to understand the multi-systemic course of SLSMDS and track clinical outcomes. The development and design of the registry is described. Demographic characteristics, history and diagnoses, and system level prevalence of problems and interventions are reported for 42 children. System level problems and interventions include information on the following body systems: audiology, cardiac, endocrine, gastrointestinal (including pancreatic and hepatobiliary system), hematological, metabolic, neurological (including autonomic, mobility, & learning), ophthalmic, psychiatric, renal, and respiratory. Results emphasize the need of patient registries and suggest that the diagnostic odyssey and burden of disease for children with SLSMDS is significant. System-level findings may help families and clinical providers with diagnosis, prognostication, and treatment. A multidisciplinary team of clinical experts with a central coordinating specialist for children with SLSMDS is recommended.

Copyright © 2021 Elsevier Inc. All rights reserved.

Keywords: Kearns-Sayre syndrome; Pearson syndrome; Rare disease registry; Single large-scale mitochondrial deletion syndromes; mtDNA

Conflict of interest statement

Declaration of Competing Interest The Champ Foundation is the financial sponsor of the Champ Foundation Registry. The Champ Foundation is a non-profit organization dedicated to supporting research to

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