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Neuromuscular Junction Syndromes and Ocular Myopathies
Published in Vivek Lal, A Clinical Approach to Neuro-Ophthalmic Disorders, 2023
Other mitochondrial diseases can be associated with ophthalmoplegia, such as MELAS (mitochondrial encephalopathy, lactic acidosis, stroke), MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) and Leigh syndrome (subacute necrotizing encephalomyelopathy).
Biocatalytic Nanoreactors for Medical Purposes
Published in Peter Grunwald, Pharmaceutical Biocatalysis, 2019
Oscar González-Davis, Chauhan Kanchan, Rafael Vazquez-Duhalt
Mitochondrial neurogastrointestinal encephalomyopathy is a progressive metabolic disorder caused by thymidine phosphorylase enzyme deficiency. Clinical features include mental regression, ophthalmoplegia, and fatal gastrointestinal complications (Yadak et al., 2017). Thymidine phosphorylase was encapsulated into polymeric NPs (De Vocht et al., 2009) and erythrocytes (Moran et al., 2008) in order to prolong half-life and reduce the immunogenic reactions.
Instability of Human Mitochondrial DNA, Nuclear Genes and Diseases
Published in Shamim I. Ahmad, Handbook of Mitochondrial Dysfunction, 2019
A phenotype similar to MNGIE (Mitochondrial NeuroGastroIntestinal Encephalomyopathy) is a rare presentation of POLG disease. The onset is usually in teenagers. Beside gastrointestinal symptoms leading to cachexia, PEO, ataxia and peripheral neuropathy are also present7.
Preclinical and clinical developments in enzyme-loaded red blood cells: an update
Published in Expert Opinion on Drug Delivery, 2023
Marzia Bianchi, Luigia Rossi, Francesca Pierigè, Sara Biagiotti, Alessandro Bregalda, Filippo Tasini, Mauro Magnani
Among the technolog- related limitations we should also consider the availability of blood donations when homologous RBCs are used. As a matter of facts this is not an important limitation in the majority of territories but could be a limit in poor settings. Nowadays EryDel SpA has developed a medical device (Red Cell Loader, RCL) able to process autologous blood. Most of the treatments have been performed starting from as low as 50 ml blood donation once a month from the patient that receives back its own processed RBCs, thus overcoming also the limit of blood availability. Till now, RCL has been used in clinical studies to produce dexamethasone sodium phosphate-loaded RBCs (EryDex) to be infused in Ataxia Teleangiectasia patients allowing slow release of drug for up to 1 month after dosing. Each patient received monthly repeated infusions of EryDex (range 6–30 infusions/patient, nearly 200 patients in total) which proved the adopted deliver system to be safe and well-tolerated ([136,137] and ATTeST phase III clinical trial NCT02770807). This has also been confirmed in a phase II clinical study in which sham or dexamethasone sodium phosphate-loaded RBCs were infused in healthy volunteers [135]. Actually, RCL has also been proposed to load the enzyme thymidine phosphorylase into autologous RBCs for the treatment of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) [138]. A phase II clinical trial (NCT03866954) is ongoing.