The annual costs and disease burden associated with hereditary transthyretin amyloidosis polyneuropathy (ATTRv-PN), also known as familial amyloid polyneuropathy (FAP), are considerable but within the range of other rare diseases, a Portuguese study shows. The study, titled “Societal costs and burden of hereditary transthyretin amyloidosis polyneuropathy,” was published recently…
Although uncommon, eye manifestations can affect patients with familial amyloid polyneuropathy (FAP). These are mostly caused by opacities in the jelly liquid of the eye and usually treated by surgery, a review study reports. In rare cases, these problems can further complicate and lead to vision loss. A…
Two FDA-approved treatments for high blood pressure, diuretics called indapamide and hydrochlorothiazide, might also treat diseases associated with amyloid deposits, such as familial amyloid polyneuropathy (FAP), a study suggests. Diuretics are medicines that help a person excrete more water and salt from their system to lower blood…
Despite skyrocketing healthcare costs, President Trump is committed to protecting the 30 million or so Americans with rare diseases and ensuring timely, affordable access to lifesaving treatments, the nation’s highest-ranking health official said. “We have to think about how our financing system can protect those with serious and rare illnesses.
Alnylam Pharmaceuticals has opened its second annual competitive grants program, supporting patient advocacy projects worldwide that aim to address the unmet and diverse needs of ATTR amyloidosis, a group of conditions that include familial amyloid polyneuropathy (FAP). Applications for the program, called Advocacy for Impact, are now open and can…
Akcea Therapeutics and Ionis Pharmaceuticals announced the launch of a Phase 3 clinical trial evaluating the safety and efficacy of AKCEA-TTR-LRx (ION-682884) for the treatment of adults with familial amyloid polyneuropathy (FAP). The global, open-label, randomized NEURO-TTRansform trial (NCT04136184) is expected to start in December.
An affordable, portable, and non-invasive human motion tracking system based on an RGB-D camera can be useful for monitoring gait impairments in people with familial amyloid polyneuropathy (FAP), a study shows. Using such a tracking system can provide a more accurate assessment compared with the subjective measures…
Rare disease-themed videos glowed on a large screen before an audience of people in wheelchairs, with crutches, and bearing oxygen tanks this Nov. 9 and 10 in San Francisco. Disorder: The Rare Disease Film Festival strives to eventually host a film about every one of the nearly 7,000 rare…
The addition of the amino acid homocysteine to the mutated transthyretin (TTR) protein found in patients with familial amyloid polyneuropathy may contribute to heart problems in these patients, a recent study suggests. Specifically, this addition destabilizes and promotes the aggregation of mutant TTR protein, but it does not affect the…
Autonomic symptoms are common among patients with hereditary ATTR amyloidosis, usually accompany the progression of peripheral neuropathy, and are more prevalent in carriers of Val30Met mutations, a review of studies concluded. The research, “Characteristics and natural history of autonomic involvement in hereditary ATTR amyloidosis: a systematic…