The protein cathepsin E — known for regulating immune system cells — may be a potential biomarker for familial amyloid polyneuropathy (FAP), a study suggests. Specifically, researchers found that the protein was present at comparatively low levels in the macrophages — a type of immune cells —…
Diagnosing hereditary amyloid transthyretin (ATTRv) amyloidosis with polyneuropathy, also called familial amyloid polyneuropathy (FAP), is challenging, particularly in in places where the disease is less prevalent, researchers say. A high level of suspicion on the part of the physician is required to diagnose patients as early as possible, according…
People with a type of FAP caused by a Ser77Tyr mutation are more likely to develop conjunctival lymphangiectasia, an uncommon clinical condition characterized by swelling of the conjunctiva — the clear tissue covering the white part of the eye and the inside of the eyelids, a recent…
Tegsedi (inotersen) has been approved in Brazil to treat stage 1 or 2 nerve damage (polyneuropathy) in adults with hereditary transthyretin amyloidosis (hATTR), also known as familial amyloid polyneuropathy (FAP), PTC Therapeutics announced in a corporate update. The medicine was granted…
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.