We discuss two adult siblings who presented with symptoms of myalgia and rhabdomyolysis following exercise with myoglobinuria; genetic testing confirmed carnitine palmitoyltransferase II deficiency and resulted in institution of appropriate crisis management and dietary advice. We explore the phenotypic variability of this commonest fatty oxidation defect that remains under-diagnosed in the adult population and provide clues for early recognition and diagnosis.
The NHS and the manufacturers of the DMTs agreed to create the RRMS RSS to make these treatments available. The use of data from this scheme to inform a subsequent review of NICE guidance is examined. Changing clinical landscape: Substantial advances in the treatment of RRMS have led to the approval of a range of new DMTs and the identification of several subgroups of patients with RRMS who may benefit from certain DMTs. The definitions of these subgroups often come from clinical trials, which are subject to change as clinical understanding of the role of DMTs improves. The definition of clinically relevant groups can vary between trials, creating challenges with generalising evidence when assessing DMTs. Efforts from NICE to ensure its guidance reflects this changing landscape and provides clinicians with clear and relevant recommendations are discussed. Common uncertainties in HTAs OF DMTs FOR RRMS: NICE has identified several areas of uncertainty, which may drive costeffectiveness results in HTAs of DMTs for RRMS. These include the costs associated with different health states, the long-term effectiveness of DMTs and different approaches to modelling the mortality rates of people with RRMS. The HTA appraisal committee's judgements about these uncertainties is discussed, along with recommendations for future research.
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