Heart involvement is more prevalent among men with hereditary transthyretin (ATTRv) amyloidosis, a group of rare disorders that includes familial amyloid polyneuropathy (FAP), a study reports. Findings suggest that female sex may be protective against heart disease in ATTRv, and that being male may also contribute to disease worsening. The…
A clinical trial of the gene-editing therapy NTLA-2001 in people with familial amyloid polyneuropathy (FAP) is expanding to include those with a related condition, called ATTR amyloidosis with cardiomyopathy (ATTR-CM), Intellia Therapeutics, which is developing the therapy, reported. FAP is a form of ATTR amyloidosis — a group of disorders…
Protego Biopharma has raised $51 million to support the development of therapies for diseases caused by protein misfolding, such as familial amyloid polyneuropathy (FAP). The series A financing was co-led by Lightspeed Venture Partners, Vida Ventures, and MPM Capital. As part of the financing, representatives from these three…
An annual decline in sensory nerve function — one greater than 25% — occurs as long as two years before the onset of familial amyloid polyneuropathy (FAP) in people carrying Val30Met, the most common disease-causing mutation in FAP, a study shows. Such drops in function, as measured by non-invasive…
The benefits of Vutrisiran in reducing neurologic impairment and overall disability, and improving the quality of life in adults with familial amyloid polyneuropathy (FAP) were sustained over 18 months, according to new data from the ongoing Phase 3 HELIOS-A trial. “These results build on the positive vutrisiran data…
A retrospective study by the National Institutes of Health (NIH) suggests that healthcare costs for those with rare diseases have been underestimated, possibly being three to five times higher than for those without rare diseases. This study provides evidence of the potential effect rare diseases may have on public health…
Note: This story was updated Nov. 24, 2021 to clarify that NTLA-2001 works by disrupting the TTR gene to reduce transthyretin levels. The U.S. Food and Drug Administration (FDA) has given orphan drug designation to NTLA-2001, an investigational gene-editing therapy for familial amyloid polyneuropathy (FAP) and other forms of…
Global Genes has partnered with the Rare Disease Diversity Coalition (RDDC) to advance health equity for rare disease patients and caregivers in underrepresented communities of color. “For rare disease patients, there are many challenges — and for people of color with a rare disease, these challenges are compounded…
Tegsedi (inotersen), an approved treatment for familial amyloid polyneuropathy (FAP), has received a Category 1 classification by the legal body tasked with economic regulation of medications in Brazil. Category 1 is given by Câmara de Regulação do Mercado de Medicamentos to innovative treatments that are more effective than…
The Rare Disease Diversity Coalition (RDDC) awarded $600,000 in grants to ease the disparities faced by rare disease patients of color. These Impact Rare Disease Solution grants will go five RDDC steering committee working groups, which aim to identify problems for rare disease communities and advocate for solutions. The five…