Marisa Wexler, MS, senior science writer —

The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases.  “The RareLaunch program is…

A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…

CRX-1008, an investigational therapy also known as SOM0226 or tolcapone, is safe and well-tolerated by patients as a treatment for familial amyloid polyneuropathy (FAP), and can stabilize the TTR protein in the brain, new clinical trial data show. The findings provide a proof-of-concept for CRX-1008 as a treatment…

Using ultrasound to measure the size of the median nerve — which runs down the upper arm and continues into the forearm and hand — could be useful for the early diagnosis of familial amyloid polyneuropathy (FAP), a new study indicates. The study, “Nerve ultrasound…

Treatment with Tegsedi (inotersen) eased a range of neuropathy symptoms in people with familial amyloid polyneuropathy (FAP), new data from the NEURO-TTR Phase 2/3 trial show. The findings, “Neuropathy Symptom and Change: Inotersen Treatment of Hereditary Transthyretin Amyloidosis,” were published in the journal Muscle & Nerve,…

Treatment with Tegsedi (inotersen) slows neurological disease progression in people with familial amyloid polyneuropathy (FAP), results from a Phase 2/3 clinical trial show. The findings may be useful in designing optimal tools for measuring response to treatment in FAP, researchers said. The study, “Mnis+7 And…

Levels of calprotectin, a marker of inflammation, are elevated in the feces of people with familial amyloid polyneuropathy (FAP) who experience gastrointestinal (GI) symptoms, a study suggests. This finding implicates inflammation as a possible cause of gut symptoms in FAP and supports measuring calprotectin levels in people with…

The Italian Medicines Agency has added Tegsedi (inotersen), a treatment for familial amyloid polyneuropathy (FAP), to the list of reimbursed therapies in the country. Tegsedi was approved to treat stage 1 or 2 polyneuropathy in adults with FAP — also called hereditary transthyretin (hATTR) amyloidosis…

Treatment with Onpattro (patisiran) improves multiple aspects of quality of life in people with familial amyloid polyneuropathy (FAP), findings from a Phase 3 clinical trial show. The rapid deterioration seen in participants given a placebo illustrate the importance of starting FAP treatment as early as possible, scientists say.

A type of surgery that involves removal of the eye’s “gel” can improve vision in people with familial amyloid polyneuropathy (FAP), a new study suggests. However, subsequent surgeries often are necessary to preserve vision, highlighting the need for close follow-up after surgery. The study, “Small gauge…