hATTR-PN

A total of 30 patient advocacy groups working to further understanding and the needs of people living with rare diseases have been selected to receive a Horizon Therapeutics‘ #RAREis Global Advocate Grant. Winners of this year’s inaugural awards are spread across nine countries and represent a total of 29 rare…

“Lots of people want to ride with you in the limo, but what you want is someone who will take the bus with you when the limo breaks down.” — Oprah Winfrey On May 22, I lost my husband, Aubrey, to hereditary ATTR amyloidosis. He was my best…

Members of a Chinese family carrying a rare gene mutation causing familial amyloid polyneuropathy (FAP) experienced abnormal protein deposits in the eye — manifesting as “floaters” — before having any other noticeable disease symptoms, a case series reported. Such protein deposits can lead to functional abnormalities of the retina,…

Nonprofits, scientists, governmental organizations, and the rare disease drug development industry have long cited 7,000 as the average number of rare diseases in the world. But a new analysis shows there are as many as 10,867 rare diseases globally. And that…

I lost my husband, Aubrey, on May 22. This period of adapting to him being gone has been somewhat challenging for me. Although I thought I had come to terms with it in the weeks following his death, grief has a knack for swinging back and hitting me…

A one-time treatment with NTLA-2001, Intellia Therapeutics’ experimental gene-editing therapy for people with familial amyloid polyneuropathy (FAP) and other types of ATTR amyloidosis, continued to demonstrate reduced levels of the disease-driving transthyretin (TTR) protein for at least six months, new data show. “Based on the interim data shared today,…

If you are new to my column, my name is Jaime, and I was a caregiver to my husband, Aubrey, until he passed away on May 22. Aubrey had been diagnosed with hereditary ATTR amyloidosis. For nine years, he fought bravely against a disease that robbed him…

Some time has passed since I lost my husband on May 22. For nine years, Aubrey suffered from hereditary ATTR amyloidosis. Despite the toll of this disease on his body, he stayed positive. My late husband held on to the hope that a treatment or cure would…

Several cases in which treatment with Onpattro (patisiran) was used to ease familial amyloid polyneuropathy (FAP) symptoms were described in a recent report from Italy. The study, “Italian Real-Life Experience of Patients with Hereditary Transthyretin Amyloidosis Treated with Patisiran,” was published in Pharmacogenomics and Personalized…

Vutrisiran — now known by the brand name Amvuttra — has been approved by the U.S. Food and Drug Administration (FDA) to treat familial amyloid polyneuropathy (FAP), also known as hereditary transthyretin-mediated (hATTR) amyloidosis with polyneuropathy. The therapy is expected to be available for shipment to healthcare providers…