hATTR-PN

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…

The companionship of dogs and other pets may benefit patients by helping them cope as they manage the symptoms of familial amyloid polyneuropathy (FAP). But depending on when the pet becomes part of the family, its presence may also be a hindrance, unknowingly aggravating the patient’s pain. That’s especially…

It’s winter here in New Zealand. I woke up to a thin sheet of ice covering the deck, staying frozen just long enough to glint in the morning sun. That happens when moisture trapped in the air cools drastically and the temperature drops below freezing overnight. Now that I live…

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…

As I mentioned in my last column, my mother-in-law’s peripheral neuropathy symptoms seemed to take a turn for the worse in April. At the same time, my wife and I were experiencing additional life changes with the birth of our second daughter. Our priorities shifted, and we were…

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…