hATTR-PN

A diagnosis of hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) between the ages of 30 and 60 can be profoundly life-altering. The gravity of the disease coincides with a period traditionally devoted to building, enjoying, or securing one’s future, amplifying the impact. These decades are often defined by marriage, raising…

Nerve ultrasound — a scan that uses high-frequency sound waves to create real-time images of the body’s nerves — may be used to monitor signs of polyneuropathy, or widespread damage, in people who carry disease-causing TTR mutations but have not yet developed symptoms of hereditary transthyretin amyloidosis with polyneuropathy…

Adults who carry the Val30Met, or V30M, mutation — the most common cause of early-onset hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN) — often develop heart rhythm problems early on, a study shows. Although V30M carriers may be less likely to have cardiomyopathy, or heart muscle disease, those who do experience…

Hereditary diseases not only affect the body, but they also ripple through families, shaping relationships, identities, and mental health. I know this reality all too well. My late husband, Aubrey, was diagnosed in 2013 with hereditary ATTR amyloidosis, a genetic disorder caused by mutations in the TTR gene.

RNA-targeted therapies — ones that zero in on molecules acting as messengers for genetic information in cells — are safe and effective at slowing the progression of neurological symptoms and improving quality of life among people with hereditary transthyretin amyloidosis with polyneuropathy (hATTR-PN). Those are the findings of a…

Polyneuropathy, or widespread nerve damage, occurs in both hereditary and wild-type transthyretin amyloidosis (ATTR), but the hereditary form, which includes familial amyloid polyneuropathy (FAP), tends to cause more severe nerve impairment. Hereditary ATTR was also more often associated with gastrointestinal symptoms and less often connected to carpal tunnel…

Undergoing a liver transplant and/or receiving disease-modifying treatments significantly improves survival in people with hereditary transthyretin amyloidosis (hATTR), a group of diseases that includes hATTR with polyneuropathy, or familial amyloid polyneuropathy (FAP). Disease-modifying drugs were significantly associated with a 78% lower chance of death, while liver transplant was linked…

Onpattro (patisiran) safely and effectively helps adults with familial amyloid polyneuropathy (FAP) caused by a V122I or T60A genetic mutation keep their disease from getting worse, according to a real-world study in the U.S. The post-marketing Phase 4 study (NCT04201418) focused on patients with one of these…

Alnylam Pharmaceuticals has launched a Phase 3 clinical trial testing its experimental treatment nucresiran in adults with familial amyloid polyneuropathy (FAP), also known as hereditary ATTR amyloidosis with polyneuropathy (hATTR-PN). Top-line results are expected in 2028. This update came in the company’s latest pipeline and financial report, announced…

I recently celebrated the fifth anniversary of my work as a patient advocate for people diagnosed with amyloidosis in New Zealand. This journey began because of my late husband, Aubrey, who had hereditary ATTR amyloidosis. Out of desperation, we set out to access treatment for him. But without representation…