In August 2019, NICE published highly specialised technologies guidance 10, Patisiran for treating hereditary transthyretin amyloidosis. NICE approved patisiran as an option for the treatment of hereditary transthyretin (hATTR) amyloidosis in adults with stage 1 and stage 2 polyneuropathy. Patisiran is an RNA interference agent that uses gene silencing to prevent the build up of a protein that can cause serious tissue damage.
Hereditary transthyretin amyloidosis is an ultra-rare, progressive condition that affects around 150 people in the UK. The condition results from mutations in the transthyretin (TTR) gene which cause the liver to produce abnormal TTR protein. The abnormal protein accumulates as deposits in tissues through the body, disrupting their structure and function, and causing symptoms related to multiple systems, including the autonomic, peripheral, and central nervous systems, the heart, and the gastrointestinal tract.
Symptoms of hATTR amyloidosis may appear at different times for each individual, so it is not usually immediately identified which causes delays in diagnosis. The effect of hATTR amyloidosis on patients’ daily lives is considerable, and people with the condition require a high level of care as the disease progresses. Therapeutic options for people with hATTR amyloidosis have been limited, mainly focused on symptom relief and supportive care.
Patisiran prevents the production of abnormal TTR protein and hence its subsequent accumulation in tissues around the body. Clinical trials have shown that patisiran reduces disability and improves quality of life, enabling patients to return to work, carry out daily activities, participate in a more active family and social life, and maintain their independence and dignity. Although clinical evidence on its long-term use is scarce, patisiran may provide long-term benefits by halting or even reversing the progression of the condition.