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…
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,…
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…
The National Organization for Rare Disorders’ (NORD) “Living Rare, Living Stronger Patient and Family Forum” is back in person on June 26 for a day of learning and networking in Cleveland, Ohio. The event, which brings together the rare disease community, will take place at the InterContinental Cleveland Conference…
Vutrisiran continues to show promise at lessening heart damage in adults with familial amyloid polyneuropathy (FAP) with cardiac involvement, according to exploratory new data from the ongoing Phase 3 HELIOS-A trial. Data collected over 18 months of treatment in patients with pre-existing evidence of cardiac involvement showed that vutrisiran led…
Fat accumulation in the soleus muscle, a large muscle of the lower leg, may be indicative of disease progression in people with hereditary transthyretin (ATTRv) amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP), a small study in China suggests. The study, “Skeletal Muscle Involvement Pattern of…
A seven-year genetic screening program in Bulgaria involving people at high risk of hereditary transthyretin amyloidosis — a group of conditions that also includes familial amyloid polyneuropathy (FAP) — found patients showed mixed symptoms, with some clinical peculiarities related to specific disease-causing mutations. According to researchers, such genetic screening is…
The first patient has been dosed in the second part of a Phase 1 trial evaluating NTLA-2001, Intellia Therapeutics’ investigational gene-editing therapy for people with familial amyloid polyneuropathy (FAP) and other forms of ATTR amyloidosis. The first part of the study exposed patients to single ascending doses of…