A difficult name for a rare and serious disease. We are talking about transthyretin-mediated hereditary amyloid polyneuropathy (ATTRv-PN), a debilitating disease that causes damage to the peripheral nervous system causing motor disability five years after diagnosis and, without treatment, has potentially fatal outcomes within ten years. It is precisely the protein transthyretin that plays an important role in the development of the disease and hitting it with a drug that lowers its levels has proven to be a good strategy, as underlined by the results on the drug eplontersen presented during the annual meeting of the American Academy of Neurology. Patients who received eplontersen show lower levels of transthyretin and less functional impairment related to neuropathy and better quality of life.
Rare diseases, women affected twice
by Tiziana Moriconi
The illness
“Transthyretin-mediated hereditary amyloid polyneuropathy is a rare genetic disease” – says Laura Obici of the Systemic Amyloidosis Center, IRCCS Policlinico San Matteo di Pavia Foundation, and investigator of the NEURO-TTRansform trial. “It is a complex and debilitating disease, with rapidly developing treatment options, but still characterized by a strong unmet clinical need.” Along with cardiomyopathy, polyneuropathy is one of the manifestations of transthyretin amyloidosis (ATTR). In patients with ATTR, the protein accumulates by aggregating into fibrils in various tissues – peripheral nerves and heart, gastrointestinal system, eyes, kidneys, central nervous system, thyroid gland and bone marrow – interfering with their functions. Continued deposition of transthyretin results in irreversible damage and disease aggravation. It is estimated that worldwide there are 300,000-500,000 patients with ATTR cardiomyopathy and approximately 40,000 with neuropathy.
I study
“The NEURO-TTRansform study showed that eplontersen, by reducing plasma levels of transthyretin, halts disease progression and improves patients’ quality of life compared to placebo,” says Obici. “These important results demonstrate the consistent and sustained benefit of eplontersen and confirm its potential to further revolutionize current treatment. With this drug it will be possible to substantially modify the course of the disease with the benefit of patients living with this debilitating and fatal disease”.
Eplontersen is also currently being evaluated for the treatment of transthyretin-mediated amyloid cardiomyopathy.