Blood NfL levels may mark the onset of symptoms in FAP

Blood levels of neurofilament light chain (NfL) — a marker of nerve cell damage — can separate people with symptoms of forms of hereditary ATTR amyloidosis (hATTR), including familial amyloid polyneuropathy (FAP), from those who haven’t developed symptoms yet. That’s according to a study in Italy that also showed…

Benefits of eplontersen continue for more than 1.5 years: Trial data

Eplontersen continues to safely and effectively ease symptoms and improve quality of life for people with familial amyloid polyneuropathy (FAP) who have been on the treatment for more than 1.5 years in the Phase 3 NEURO-TTRansform clinical trial. That’s according to top-line, 85-week results announced by…

Staying Positive as Someone Affected by Rare Disease

No matter what you’re going through or where you are, know you are not alone. Suffering from a rare illness like hereditary ATTR amyloidosis (hATTR) is filled with daily challenges, and no two days are alike. I know this not because I am a sufferer but because my spouse was…

Additional Data from APOLLO Trial Supports Patisiran as Promising FAP Therapy

Alnylam Pharmaceuticals’ investigative patisiran treatment improves overall health and prevents worsening of walking ability in patients with familial amyloid polyneuropathy (FAP), according to a new analysis from the APOLLO Phase 3 study. FAP, also known as hereditary ATTR (hATTR) amyloidosis, is caused by mutations of the transthyretin (TTR) gene…

Cognitive Impairment Common Among Older, Untreated FAP Patients

Researchers have found that a large proportion of untreated people with the TTRVal30Met mutation — causing familial amyloid polyneuropathy (FAP) — have cognitive impairment, particularly if they experience disease symptoms. Such problems are more common in older patients and those with late-onset disease, the study, published in the Journal of Neurology…