According to a story from BioPortfolio, the drug company Alnylam Pharmaceuticals recently presented research findings related to hATTR amyloidosis, a rare disease. The study was presented at the Second European Meeting of ATTR Amyloidosis for Doctors and Patients. The findings were from a phase 3 clinical trial of the drug patisiran (marketed as ONPATTRO), which is approved in the US as a treatment for polyneuropathy associated with the disease. The study was an in-depth analysis of disease biomarkers.
About HATTR Amyloidosis
HATTR Amyloidosis is a disease which is characterized by the build up amyloid fibrils in body tissue. Amyloid fibrils are a type of abnormal protein. The disease is caused by a heritable genetic mutation. Symptoms of the illness include swelling, heart failure, irregular heartbeat, shortness of breath, fatigue, weight loss, easy bruising and bleeding, stroke, lung problems, enlarged liver, and changes in skin color. Treatment approaches for hATTR amyloidosis includes liver transplant; This can actually cure the disease, but the procedure carries substantial risks and side effects. This form of amyloidosis has a better prognosis than some of the more common types with some patients surviving for over a decade. It is estimated to affect around 50,000 people worldwide. To learn more about amyloidosis, click here.
The analysis revealed changes in 66 different proteins in patients following treatment with patisiran. The most promising of these proteins was neurofilament light chain (NfL). This potential biomarker exhibited the most statistically useful changes following treatment and has long been established as a useful biomarker for neuroaxonal damage. Generally, a decrease in the levels of NfL was associated with improvements in polyneuropathy. NfL could allow for more effective monitoring of disease progression and could allow for the symptoms of polyneuropathy to be identified more easily.
An analysis of the UK Biobank was also presented at the meeting which pertained to the T119M transthyretin variant that does not cause disease but is nevertheless related to the transthyretin that plays a role in hATTR amyloidosis. People with the T119M variant had higher protein levels in their blood. A prior study associated this variant with reduced risk of vascular illness and longer lifespan, but this study was unable to corroborate the earlier findings.