Researchers reported that a clinical trial called NEURO-TTRansform encompassed a wide spectrum of patients with various regional, genetic, and disease-severity attributes, making it reflective of the real-world population of patients with hereditary transthyretin amyloidosis-polyneuropathy (ATTRv-PN) seen in clinical practice. The finding was published in Neurology and Therapy. 

Patients with ATTRv have a buildup of abnormal versions of the transthyretin protein. These proteins clump together into “clusters” to form amyloid. Their buildup causes multiorgan damage, affecting the liver, heart, kidney, and nerves, leading to early death. 

Currently, a number of potential drugs are being tested in clinical studies. One such drug is eplontersen, which degrades transthyretin protein mRNA in the liver, inhibiting its production. NEURO-TTRansform is an international, open-label, phase 3 clinical study assessing the safety and effectiveness of the drug in 168 adults with ATTRv-PN. The authors of this study sought to characterize the population of patients enrolled in this study, including parameters such as age, gender, geographical location, and disease-related data. 

Read more about hereditary transthyretin amyloidosis etiology 

The patients enrolled in this study were aged 18 to 82 years and had a diagnosis of ATTRv-PN. In addition, they must be in either Coutinho stage 1 or 2, have a documented TTR sequence variant, and display signs and symptoms of neuropathy consistent with ATTRv amyloidosis. Patients with alternate causes of polyneuropathy or those who had undergone a liver transplantation were excluded. 

Among the findings reported was that the study encompassed 15 countries, including Taiwan, Argentina, Portugal, the US, and Brazil. The greatest number of patients were from Asia/Australia/South America (n=78), followed by Europe (n=64). Around a quarter of the patients had cardiomyopathy (ATTRv-CM).

V30M was the most prevalent TTR sequence mutation in this patient population. The patients in this study described having a disease impact on their physical function more severe than patients with other chronic illnesses, such as Crohn disease and diabetic retinopathy. 

“The cohort is diverse regarding demographic features, genetic variant characteristics, and prior treatment for ATTRv-PN and is representative of a global clinical population,” the authors of the study concluded. 


Coelho T, Waddington Cruz M, Chao CC, et al. Characteristics of patients with hereditary transthyretin amyloidosis-polyneuropathy (ATTRv-PN) in NEURO-TTRansform, an open-label phase 3 study of eplontersenNeurol Ther. 2022;10.1007/s40120-022-00414-z. doi:10.1007/s40120-022-00414-z