People with familial amyloid polyneuropathy (FAP) and other forms of hereditary transthyretin amyloidosis (hATTR) have abnormal blood levels of two proteins, called growth differentiation factor-15 (GDF-15) and uromodulin (Umod), a small study reports. The preliminary findings from 16 patients in Italy suggest GDF-15 and Umod may serve as biomarkers of…
Combination therapy for hereditary transthyretin amyloidosis (hATTR), a group of conditions including familial amyloid polyneuropathy (FAP), appears to be safe, according to a retrospective study, but because its effects “on neurological symptoms could not be assessed,” more studies are needed to confirm its benefits, the researchers wrote. Most of…
Onpattro (patisiran) may help familial amyloid polyneuropathy (FAP) patients who respond poorly to tafamidis meglumine stabilize or have reduced symptoms of nerve damage, called polyneuropathy. The findings are part of of a real-world study in France that analyzed data from 24 patients on tafamidis meglumine, approved as…
The clinical symptoms of hereditary transthyretin amyloidosis (hATTR) — a group of disorders that includes familial amyloid polyneuropathy (FAP) — are highly influenced by the type of mutation in the TTR gene a patient has, a review study concludes. The findings indicate that a clinical profile marked mainly by neurologic problems,…
Onpattro (patisiran), an approved treatment for familial amyloid polyneuropathy (FAP), is now listed on Australia’s Pharmaceutical Benefits Scheme (PBS), meaning that eligible patients in the country can access the therapy at a lower cost. The listing specifically covers Onpattro’s use by adults with a genetic FAP diagnosis…
Young adults at risk for familial amyloid polyneuropathy (FAP) face unique psychological and social challenges, and likely would benefit from tailored healthcare support when undergoing pre-symptomatic testing for the rare disease. That’s according to a new study by researchers in Portugal, who conducted interviews with more than a dozen…
A man carrying p.Val142Ile, a TTR gene mutation often linked to a condition related to familial amyloid polyneuropathy (FAP) but causing heart damage instead of nerve damage, developed FAP-like neurological symptoms and no heart involvement, a case report showed. “The particularly unusual [genetic profile-clinical profile] association distinguishes this case…
The first patient has been dosed in a China-based Phase 1/2a clinical trial testing YOLT-201, Yoltech Therapeutics’ one-time gene-editing therapy, in people with hereditary transthyretin amyloidosis (hATTR), a group of diseases that includes familial amyloid polyneuropathy (FAP). Two weeks after receiving the investigational therapy, which was given as…
A second, therapeutic dose of Intellia Therapeutics‘ experimental gene-editing therapy NTLA-2001 safely and effectively reduced levels of the harmful transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP). That’s according to data from the three FAP patients first treated with a suboptimal, low dose of NTLA-2001 who…
The oral medication tafamidis meglumine appears to be well tolerated by adults with familial amyloid polyneuropathy (FAP) in France, where the treatment is approved under the brand name Vyndaqel and is often started at an early stage of the disease, a real-world study finds. Easy access to a…