CEPARM: Four decades of dedication to advancing Familial Amyloidotic Polyneuropathy research and patient care

This paper delves into the remarkable journey of theCentro de Paramiloidose Antônio Rodrigues de Mello (CEPARM),located at the Hospital Universitário Clementino Fraga Filho(HUCFF) of UFRJ, over the past four decades, from itsestablishment in 1984 to its emergence as a pioneering institution inthe so called field of Familial Amyloidotic Polyneuropathy (FAP).Founded in response to the urgent need for specialized researchand treatment of this rare genetic disorder prevalent amongindividuals of Portuguese descent mainly with expressivePolyneuropathy (Hereditary Transthyretin Amyloidosis withPolyneuropathy - hATTR-PN) or even Cardyomyopathy (HereditaryTransthyretin Amyloidosis with Cardyomyopathy hATTR-CM),CEPARM has played a crucial role in the evolution of this field.The paper offers a comprehensive overview of thecenter’s development, emphasizing its major achievements,research contributions, and advancements in patient care. Ithighlights CEPARM’s pivotal role in developing innovativetreatment protocols, including the introduction of livertransplantation for FAP and groundbreaking therapies such astafamidis, patisiran, inotersen, vutrisiran, and eplontersen.Additionally, the paper explores CEPARM’s efforts to enhancepatient quality of life through multidisciplinary care and supportprograms.By reflecting on the center’s historical milestones,leadership transitions, and ongoing initiatives, this paperunderscores CEPARM’s unwavering commitment to advancingscientific knowledge and improving patient outcomes mainly in therealm of hATTR-PN.