Estratégias terapêuticas na abordagem da Doença de Huntington

Abstract

This systematic literature review article on treatments for Huntington's Disease (HD) presented a comprehensive analysis of recent studies that seek to improve the quality of life and progression of this neurodegenerative condition. The introduction highlighted HD as a rare and progressive hereditary disease, caused by a mutation in the HTT gene, resulting in the production of mutant huntingtin and triggering characteristic symptoms, such as chorea. The methodology detailed the selection of articles, inclusion and exclusion criteria, resulting in the analysis of 6 studies that addressed treatments for HD, considering efficacy and therapeutic response. The results revealed significant advances, such as the study with pridopidine, which demonstrated benefits in the Total Functional Capacity of patients with HD, and pepinemab and deutetrabenazine, which also showed promising results in reducing chorea symptoms and long-term safety. The complexity of HD was highlighted in studies such as SBT-020, where patients' initial mitochondrial dysfunction influenced the response to treatment, highlighting the importance of considering patients' heterogeneity. In conclusion, the review highlights the relevance of new therapies and innovative approaches in the treatment of HD, aiming not only to control symptoms, but also to promote a better quality of life and well-being for patients affected by this condition. The studies analyzed point to a promising scenario for the development of more effective and targeted therapies, paving the way for a personalized approach adapted to the individual needs of HD patients, with the potential to positively impact disease progression and patient survival.