News

More than a year of treatment with the experimental therapy eplontersen significantly reduces blood levels of transthyretin — the protein that accumulates to toxic levels in familial amyloid polyneuropathy (FAP) — eases nerve damage-related disability, and improves quality of life for patients. That’s according to the full results…

Testing the ability to sense temperatures and mechanical forces could help predict when symptoms will appear for people who carry mutations that cause familial amyloid polyneuropathy (FAP). That’s according to “Quantitative sensory testing and skin biopsy findings in late-onset ATTRv presymptomatic carriers: Relationships with predicted time of disease…

A committee of the U.S. Food and Drug Administration (FDA) has endorsed Onpattro (patisiran) for the treatment of the ATTR amyloidosis with cardiomyopathy (ATTR-CM), or heart damage. Earlier this year, Alnylam Pharmaceuticals, which is developing Onpattro, submitted a supplemental new drug application (sNDA) to the federal agency…

An international panel of patient advocates and healthcare providers has published the first set of recommendations outlining steps for the holistic care of people living with hereditary transthyretin-mediated amyloidosis (hATTR), a group of disorders that includes familial amyloid polyneuropathy (FAP). The guidelines focus not only on early diagnosis…

A rare mutation in the TTR gene was identified as the cause of familial amyloid polyneuropathy (FAP) in a family in China whose first symptom was diarrhea, according to a case report. All the affected family members eventually developed muscle weakness and some had numbness and/or deficient control of…

Treatment with Vyndaqel (tafamidis) reduces signs of heart damage for most people with hereditary ATTR amyloidosis with cardiomyopathy (hATTR-CM) associated with the A97S mutation, the most common cause of the disease in Taiwan, a study in that country shows. Notably, improvements in heart health were most pronounced among patients…

Amvuttra (vutrisiran) provided significant clinical benefits in multiple measures of quality of life and physical function in people with familial amyloid polyneuropathy (FAP), according to published details of the HELIOS-A clinical trial. Benefits, which also included early gains in nutritional status, were most pronounced in those in the…

A 63-year-old man in Japan with a large bulge in his right arm bicep, called “Popeye sign,” was diagnosed with late-onset familial amyloid polyneuropathy (FAP), according to a case report which suggests this sign has potential to diagnose the disease. The reason behind the symptom remains unclear in this…

AstraZeneca has added Latin America to the list of regions in which it has exclusive commercialization rights for eplontersen, an investigational therapy being reviewed for approval by the U.S. Food and Drug Administration (FDA) to treat familial amyloid polyneuropathy (FAP). Eplontersen’s original developer, Ionis…

Scientists have developed a first patient-reported questionnaire on quality of life that’s specific to transthyretin amyloidosis (ATTR). Called the Transthyretin Amyloidosis – Quality of Life Questionnaire (ATTR-QOL), it was created with significant patient involvement and guidance from a multidisciplinary group of clinical specialists, led by scientists with the Amyloidosis…