Almut Bischoff (München / DE), Prof.Dr. Thomas Klopstock (München / DE), Dr.med. Boriana Büchner (München / DE), on behalf of mitoNET Registry on behalf of mitoNET Registry (München / DE)
Abstract-Text (inkl. Referenzen)
Introduction: CPEO, CPEO plus and Kearns-Sayre-Syndrome are a continuous spectrum of mitochondrial diseases with PEO, muscle weakness and variable affection of other body systems including heart, CNS and PNS. Most common cause is a single deletion of mtDNA, but other mtDNA mutations as well as nuclear mutations may be causal.In 2009 the German network for mitochondrial diseases (mitoNET) implemented a registry and a natural history study for patients with mitochondrial diseases (mitoREGISTRY).
Methods: Out of > 1500 patients in the mitoREGISTRY we have identified 275 patients with CPEO-, CPEO plus- or KSS-phenotype, some with a follow up of up to 10 years. We will analyze systematically all datasets and determine the genetic background, clinical manifestations over time and functional parameters evaluated by physical exam, NMDAS and SARA-Score.
Results: The cohort consists of 275 patients, 150 females and 125 males, with a mean age of 47 years at baseline. Mean age at onset 24,7 years. We will show the spectrum of underlying genetic causes and clinical manifestations over time. Longitudinal data in terms of a mean yearly progression rate in NMDAS and SARA will be presented.
Discussion: We will present natural history data of a large cohort of CPEO, CPEO plus and KSS patients with a follow up of up to 10 years. Natural history studies with NMDAS data and symptom development over time are important for prognostic counseling and can inform for design of future clinical trials.