Eplontersen reduced transthyretin (TTR) protein levels, eased disease progression, and improved quality of life in adults with familial amyloid polyneuropathy (FAP), according to an eight-month interim analysis of the NEURO-TTRansform study. Based on these data, the investigational therapy’s co-developers Ionis Pharmaceuticals and AstraZeneca will seek regulatory approval…
The newly approved familial amyloid polyneuropathy (FAP) treatment Amvuttra (vutrisiran) is being offered at UC San Diego Health to help mitigate symptoms resulting from the nerve damage that marks the progressive disorder. According to UC San Diego Health, it’s the nation’s first health system to offer the treatment to…
Long-term treatment with Tegsedi (inotersen) reduced pain and improved physical functioning and health-related quality of life in patients with familial amyloid polyneuropathy (FAP). That’s according to an analysis of data from the Phase 3 NEURO-TTR trial (NCT01737398) and its open-label extension (OLE) study (NCT02175004).
A diagnosis of familial amyloid polyneuropathy (FAP) due to a mutation in the TTR gene was made in an older man from China, a country where the disease is not regularly found. The mutation, called Val30Met, is the most common cause of FAP in regions of the…
Larger studies are needed to back the use of nailfold capillaroscopy — a non-invasive technique for imaging tiny blood vessels in the fingers — for the early detection of familial amyloid polyneuropathy (FAP), a new report says. Nailfold capillaroscopy, known as NFC, allows researchers to image blood vessels…
Alnylam Pharmaceuticals has selected Orsini Specialty Pharmacy to distribute Amvuttra (vutrisiran), which was recently approved by the U.S. Food and Drug Administration (FDA) to treat familial amyloid polyneuropathy (FAP). “We are honored to work with Alnylam in providing access to this important treatment option or medication for…
A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…
Members of a Chinese family carrying a rare gene mutation causing familial amyloid polyneuropathy (FAP) experienced abnormal protein deposits in the eye — manifesting as “floaters” — before having any other noticeable disease symptoms, a case series reported. Such protein deposits can lead to functional abnormalities of the retina,…
Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…
A one-time treatment with NTLA-2001, Intellia Therapeutics’ experimental gene-editing therapy for people with familial amyloid polyneuropathy (FAP) and other types of ATTR amyloidosis, continued to demonstrate reduced levels of the disease-driving transthyretin (TTR) protein for at least six months, new data show. “Based on the interim data shared today,…