New Hope for Hereditary transthyretin Amyloidosis Patients
Genoa, Italy – November 10th - A promising new treatment, eplontersen, is on the horizon for patients with hereditary transthyretin amyloidosis with polyneuropathy (Attrv-Pn), with potential reimbursement expected within the first six months of 2026. This was announced by Laura Obici, a researcher at the Irccs Policlinico San Matteo Foundation in Pavia, at the 46th Sifo National Congress.
Attrv-Pn is a rare, inherited genetic disease caused by the buildup of an abnormal protein, transthyretin, in various organs and tissues, particularly affecting the peripheral nerves and heart. While symptoms are diverse, patients typically experience sensorimotor and autonomic polyneuropathy. Recent studies indicate the disease is becoming more prevalent in Italy, with estimates now reaching around 500 patients – a rise from previous estimates of 4 cases per million inhabitants to 7.5 per million.
Eplontersen has been positively evaluated through health Technology Assessment (HTA) analysis, considering its cost-effectiveness, social impact, and ability to address unmet patient needs. Key benefits of the drug include convenient self-administration, less frequent dosing (once every four weeks), and a strong safety profile without the need for premedication.
Obici emphasized the critical need for earlier diagnosis, as delayed recognition often leads to irreversible damage. While current therapies effectively slow disease progression, earlier intervention with treatments aimed at restoring function is crucial. Furthermore, managing Attrv-Pn requires a multidisciplinary approach involving multiple specialists due to the disease’s wide-ranging impact on the body. Obici noted that not all medical centers currently possess the necessary multidisciplinary expertise,and improved support for patients and thier families is also needed.
