Eidos Therapeutics announced that the Phase 3 clinical trial evaluating its lead candidate acoramidis (formerly known as AG10) in treating adults with transthyretin amyloidosis cardiomyopathy (ATTR-CM) is fully enrolled. Top-line results from part A of the trial, called ATTRibute-CM (NCT03860935), are expected in late 2021 or early 2022, and from…
Although less able to form damaging protein deposits, the E61K variant of transthyretin appears to cause familial amyloid polyneuropathy (FAP) through other mechanisms, a study suggested. The study, “A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy,” was published in the Journal…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
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…
A Phase 1 trial of NTLA-2001, a potential gene editing therapy for familial amyloid polyneuropathy (FAP), was approved to open by the United Kingdom’s Medicines and Healthcare products Regulatory Agency (MHRA). Intellia Therapeutics is planning to launch the open-label and two-part trial in people with hereditary transthyretin amyloidosis (ATTR) with polyneuropathy before…
A single dose of NTLA-2001, Intellia Therapeutics’ investigational gene editing therapy for transthyretin amyloidosis (ATTR), results in a sustained reduction in the levels of the damaging transthyretin (TTR) protein for at least one year, according to preclinical data. Based on these promising data in non-human primates,…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
Blood levels of neurofilament light chain (NfL) — a protein commonly used as a marker of nerve cell death in neurodegenerative disorders — associate with the severity of peripheral nerve damage (polyneuropathy) in people with familial amyloid polyneuropathy (FAP), a study reports. In fact, NfL seems to be…
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…
The characteristic toxic buildup of mutant transthyretin (TTR) protein clumps in familial amyloid polyneuropathy (FAP) affects the development of nerve cell fibers by interacting with regulators of a protein called actin, according to a study in a fruit fly model of the disease. The data suggested that…