The case of a woman of Afro-Caribbean descent with early onset transthyretin (TTR) amyloidosis, who was found to carry a TTR mutation more commonly seen in those of Celtic descent, showed that this disorder can be more varied than previously known. Titled “Early-Onset of Transthyretin Amyloidosis in…
PRX004, an investigational treatment by Prothena, can reduce the progression of nerve damage (neuropathy) and improve heart function in people with hereditary transthyretin amyloidosis (ATTR), which includes familial amyloid polyneuropathy (FAP), according to results from a Phase 1 trial. “We are pleased to see evidence of both a slowing…
Abdominal fat pad biopsy is an accurate diagnostic tool for patients with suspected hereditary transthyretin amyloidosis (ATTR), showing the greatest sensitivity in those with ATTR with polyneuropathy, also known as familial amyloid polyneuropathy (FAP). Importantly, findings show, the…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
Onpattro (patisiran) results in sustained improvements in polyneuropathy, quality of life, and other symptoms among people with familial amyloid polyneuropathy (FAP), while showing an acceptable safety profile, according to a one-year interim analysis from an open-label extension clinical trial. The study, “Long-term safety and efficacy…
The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…
Onpattro (patisiran) is more effective than Tegsedi (inotersen) at reducing neurological impairment and improving quality of life in people with familial amyloid polyneuropathy (FAP), a comparison of data from two clinical trials reported. The…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
Three recently approved therapies for treating familial amyloid polyneuropathy (FAP), also known as hereditary transthyretin amyloidosis with polyneuropathy, have won their developers Best Biotechnology Product honors in the 2020 Prix Galien USA Awards, the Galien Foundation announced. Ionis Pharmaceuticals and its subsidiary Akcea Therapeutics claimed the…
The first patient has been dosed in a Phase 1 clinical trial evaluating NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy for the treatment of hereditary transthyretin amyloidosis with polyneuropathy (ATTR-PN), also known as familial amyloid polyneuropathy (FAP). The trial (NCT04601051) is recruiting at a site…