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…
Taiwanese people with familial amyloid polyneuropathy (FAP) have a significantly altered composition of intestinal bacteria relative to their unrelated healthy family members, a new study showed. In addition, the composition of gut microbiota, or bacteria living in the intestines, was associated not only with the severity of nerve damage…
Getting genetic counseling can encourage people at risk for hereditary transthyretin amyloidosis to have genetic testing and know they have the option to seek early treatment if needed, a study suggests. Hereditary transthyretin amyloidosis is a group of diseases that include familial amyloid polyneuropathy (FAP). Having genetic testing can…
Rising levels of a protein called neurofilament light chain (NfL) in the blood may indicate nerve damage due to familial amyloid polyneuropathy (FAP) even before the disease manifests, a study in 65 people reports. These findings suggest that testing for NfL levels could be used to detect nerve damage…
Wainua (eplontersen) is able to slow disease progression and improve life quality for people with familial amyloid polyneuropathy (FAP) regardless of nutritional status, sex, or certain genetic factors. That’s according to new subgroup analyses from the Phase 3 NEURO-TTRansform clinical trial (NCT04136184), whose top-line data supported Wainua’s…