News

Pandemic Won’t Stop Rare Disease Day on Feb. 28

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…

NORD’s 6th ‘State Report Card’ Notes Progress, Raises Concerns

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…

Patient Records Show ATTRv Amyloidosis Symptoms Years Before Diagnosis

People with hereditary transthyretin (ATTRv) amyloidosis, which includes familial amyloid polyneuropathy, experience multiple medical issues prior to diagnosis, with potential ATTRv markers commonly appearing in the year before, according to a recent study. A better understanding of patient experiences may help speed its recognition and diagnosis. The study, “…

Genomic Screening IDs Risk for Hereditary ATTR Amyloidosis

Symptoms related to familial amyloid polyneuropathy (FAP) and other forms of hereditary transthyretin (ATTR) amyloidosis were found in African American and Hispanic or Latinx individuals who unknowingly carried a disease-related genetic variant revealed by genomic screening, according to a recent study.

NORD’s Caregiver Respite Program Continues Through Pandemic

Caring for a loved one with a rare disease, especially during these uncertain times, demands significant time, attention, patience, and dedication. To help meet that need, the National Organization for Rare Disorders (NORD)’s Rare Caregiver Respite Program may be a helpful resource. The program seeks to give a…

Imaging Agent Can Help Differentiate Between Amyloidosis Types

AT-01, an imaging agent being developed by Attralus, can help to differentiate between transthyretin (ATTR) amyloidosis — which includes familial amyloid polyneuropathy (FAP) — and other forms of amyloidosis, new clinical trial data indicate. The findings were presented in a poster, “Detection of Systemic AL…

Vutrisiran Reduces Neurologic Damage, Improves Physical Function, Trial Data Show

Vutrisiran, a second-generation RNA interference (RNAi) therapy candidate, safely and effectively reduces neurologic impairment and improves physical function and quality of life in adults with familial amyloid polyneuropathy (FAP). That’s according to top-line, nine-month data from the global HELIOS-A Phase 3 trial. Alnylam Pharmaceuticals, Vutrisiran’s developer, plans…