hATTR-PN

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…

New Zealand was largely able to avoid the effects of the COVID-19 pandemic, until now. The contagious nature of the delta variant and the high number of cases have placed many people on edge here in Auckland, where my husband, Aubrey, and I reside. Aubrey is a patient with…

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…

My husband, Aubrey, has begun watching cooking videos on YouTube to overcome an aversion to food and eating. We are both from Malaysia, where food and eating are central to everything. Food is such a big part of life there that when we greet others, we don’t ask them…

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…

As we enter the second half of October, I’m not quite sure how the end of the year has arrived so quickly. Time flies while caregiving. I care for my husband, Aubrey, who has hereditary ATTR amyloidosis. Though he was diagnosed in 2013, his disease onset occurred much earlier.

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…

To all my fellow caregivers, I want you to know that I understand what you are going through, and I am cheering you on. After eight years on this journey with my husband, Aubrey, it’s still challenging to come to terms with changes in his health. Since his diagnosis of…