According to a story from PR Newswire, Akcea Therapeutics, Inc. recently announced that the Portuguese Medicine Regulatory Authority (INFARMED) has announced its approval of reimbursement for inotersen (marketed as TEGSEDI®) , which is used as a treatment for stage 1 or 2 polyneuropathy associated with hereditary transthyretin (hATTR) amyloidosis in adult patients. This follows a similar announcement in neighboring Spain just a few weeks earlier.
About Hereditary Transthyretin (hATTR) Amyloidosis
HATTR Amyloidosis is a disease which is characterized by the build up of 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.
Making a Difference in Portugal
The disease is estimated to affect around 2,000 people in Portugal. This is actually a much higher rate of disease than in some other countries of similar population size and is likely the result of a higher than normal presence of the V30M genetic mutation in the population, which has been linked to the disease. This announcement means that this population will now have access to a new and effective treatment which has the potential to offer significant quality of life improvements for patients living with the disease.
TEGSEDI was first approved by the European Commission as a treatment for polyneuropathy associated with hATTR amyloidosis in 2018. The drug, which is self-administered once per week via subcutaneous injection, displayed significant benefits compared to placebo in phase 3 trials and satisfied all primary endpoints. This drug targets the RNA in order to directly slow down the production of the transthyretin protein. The medication has continued to receive approvals throughout the world, with more expected to continue.