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

Résumé

This paper delves into the remarkable journey of the
Centro de Paramiloidose Antônio Rodrigues de Mello (CEPARM),
located at the Hospital Universitário Clementino Fraga Filho
(HUCFF) of UFRJ, over the past four decades, from its
establishment in 1984 to its emergence as a pioneering institution in
the so called field of Familial Amyloidotic Polyneuropathy (FAP).
Founded in response to the urgent need for specialized research
and treatment of this rare genetic disorder prevalent among
individuals of Portuguese descent mainly with expressive
Polyneuropathy (Hereditary Transthyretin Amyloidosis with
Polyneuropathy - hATTR-PN) or even Cardyomyopathy (Hereditary
Transthyretin Amyloidosis with Cardyomyopathy hATTR-CM),
CEPARM has played a crucial role in the evolution of this field.
The paper offers a comprehensive overview of the
center’s development, emphasizing its major achievements,
research contributions, and advancements in patient care. It
highlights CEPARM’s pivotal role in developing innovative
treatment protocols, including the introduction of liver
transplantation for FAP and groundbreaking therapies such as
tafamidis, patisiran, inotersen, vutrisiran, and eplontersen.
Additionally, the paper explores CEPARM’s efforts to enhance
patient quality of life through multidisciplinary care and support
programs.
By reflecting on the center’s historical milestones,
leadership transitions, and ongoing initiatives, this paper
underscores CEPARM’s unwavering commitment to advancing
scientific knowledge and improving patient outcomes mainly in the
realm of hATTR-PN.