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…
A Russian military plane crash near Tetiana Zamorska’s home in Kyiv, Ukraine, was a sign that it was time for her and her family to leave. The treacherous, 34-hour pilgrimage that ultimately brought the group of eight by car to temporary accommodations in neighboring Poland last month was physically and emotionally difficult,…
A genetic variant in TTR — the gene implicated in familial amyloid polyneuropathy (FAP) — was linked with a greater risk of heart failure and death among Black people living in the U.S. in a recent study. In fact, being a carrier of the specific…
The European Commission is expected to propose a new governing framework for health data next month, called the European Health Data Space (EHDS), with the aim of connecting national health systems to facilitate secure and efficient transfer of data across systems in different European nations. The move is expected to…
In a real-world study of patients with worse disease severity at the start of treatment, Tegsedi (inotersen) slowed the progression of hereditary transthyretin amyloidosis — a group of disorders that also includes familial amyloid polyneuropathy (FAP) — and preserved quality of life. As progression is associated with disease…
The National Organization for Rare Disorders (NORD) has updated its State Report Card to make it more digitally friendly and added telehealth to its categories of rare disease policy issues in a nod to its increased use during the ongoing COVID-19 pandemic. NORD’s report card project began seven…
The U.S. Food and Drug Administration (FDA) is extending by three months its review timeline for vutrisiran, an experimental therapy for familial amyloid polyneuropathy (FAP) developed by Alnylam Pharmaceuticals. A decision, originally anticipated this month, is now expected by July 14. According to Alnylam, the FDA recently inspected…
Small vesicles in the blood contribute to the clumping or aggregation, and toxic accumulation of the transthyretin (TTR) protein in people with familial amyloid polyneuropathy (FAP), a study shows. These findings shed light on the underlying mechanisms of FAP and point to these small blood vesicles, known as extracellular…