Communication Processes for the Evaluation of Therapeutic Strategies for MCT8 Deficiency: A Patient-Centered Perspective
Communication Processes for the Evaluation of Therapeutic Strategies for MCT8 Deficiency: A Patient-Centered Perspective

Summary/Abstract: The aim of this article is to identify patient-relevant therapeutic targets in the context of the serious rare disease MCT8 deficiency and to evaluate the effectiveness of existing treatment approaches based on clinical and patient-reported parameters. Using a systematic literature search and an exploratory survey of 21 international patient representatives, key treatment goals and satisfaction with the current care situation were recorded. The study quality was analyzed using the GRADE criteria. Quality of life, gross motor function, gastrointestinal health, cognitive development and immune stability were named as priority treatment goals. The desire for improved sleep was mentioned most frequently. Satisfaction with the current therapies was moderate in all areas. The results emphasize the need to systematically integrate patient-relevant objectives – especially quality of life – into clinical research on MCT8 deficiency and care. The development and application of standardized PRO instruments is recommended for future studies in order to improve the care situation of those affected.

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