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. 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

Elizabeth Reynolds  1 , Matthew Byrne  2 , Rebecca Ganetzky  3 , Sumit Parikh  4
Affiliations

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

Elizabeth Reynolds et al. Mol Genet Metab. 2021 Dec.

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.

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

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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 find treatment and a cure for SLSMDS. The Champ Foundation was founded in 2015 by Jeff and Elizabeth Reynolds. Elizabeth Reynolds is a co-author of this paper. Dr. Matthew Byrne sits on the Science Advisory Board to The Champ Foundation. Dr. Rebecca Ganetzky declares that she receives consulting fees from Minovia Therapeutics, served an advisory role in the development of the CFR and sits on the Scientific Advisory Board to The Champ Foundation. Dr. Sumit Parikh sits on the Science Advisory Board to The Champ Foundation and is the principal investigator on the Champ Foundation Registry.

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