The European Commission (EC) has granted orphan drug status to Intellia Therapeutics’ NTLA-2001 gene-editing therapy for transthyretin amyloidosis (ATTR), a group of disorders that also encompasses familial amyloid polyneuropathy (FAP). Orphan drug status comes with benefits designed to ease a potential medicine’s path to market. “This news is…
As anyone affected by a rare disease knows, treating the illness while trying to go about everyday life is an expensive undertaking. But exactly how expensive — in terms of direct and indirect costs across rare disease populations — might still come as a surprise: almost…
Nerve function deteriorates more rapidly in people with familial amyloid polyneuropathy (FAP) than in those with other peripheral nerve disorders, a literature review has found. These findings may improve the understanding of the natural history of nerve damage in FAP and…
Scientist Jonathan Wall, PhD, has won a $1.79-million grant to develop a potential treatment for amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP). The grant, from the National Institute of Diabetes and Digestive and Kidney Diseases, will fund a research project, titled “Developing a Theranostic…
Ionis Pharmaceuticals has launched a new grant program to fund novice researchers investigating transthyretin (ATTR) amyloidosis, a group of conditions that includes familial amyloid polyneuropathy (FAP), also known as hereditary ATTR. “We are proud to establish the Janice Wiesman Young Investigator Grant program, an important initiative to…
Many diseases have their own awareness color — breast cancer is pink, muscular dystrophy is green, and AIDS is red, for example — but what’s the significance of pink, green, blue, and purple lights side-by-side? These are the colors most often used to represent Rare Disease Day. This…
Intellia Therapeutics anticipates reporting interim data this year from a Phase 1 study evaluating the safety and activity profile of NTLA-2001, its investigational gene-editing therapy to treat hereditary transthyretin amyloidosis with polyneuropathy, also known as…
People living with hereditary transthyretin (hATTR) amyloidosis — which includes familial amyloid polyneuropathy (FAP) — report “profound” life changes due to their disease, particularly as it progresses and affects them physically, emotionally, and socially, a study based on patient interviews reported. These findings emphasize the need for better care…
Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…
Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…