News

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…

A majority of women with hereditary angioedema (HAE) remain stable or even experience a reduction in disease severity after menopause, a small study reports. Improvements were mostly observed in women whose HAE was sensitive to estrogen fluctuations before…

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…

Catabasis Pharmaceuticals will use a $110 million private investment to complete preclinical and early clinical studies evaluating QLS-215, its investigational kallikrein-inhibitor therapy  for hereditary angioedema (HAE). QLS-215 became Catabasis’ lead product after it acquired the original developer, Quellis Biosciences, in January 2021. Now, the company plans to…

A new generic form of icatibant injection is now available in the United States to treat acute attacks of hereditary angioedema (HAE) in adults age 18 and older. The medicine was licensed to Sandoz by Slayback Pharma for commercial use in the U.S., and comes packaged in…

PHA121, an investigational oral therapy for hereditary angioedema attacks, was well tolerated across multiple doses in a group of healthy volunteers in a Phase 1 trial. Study data also indicates that PHA121 reached therapeutic levels in the first day of a 10-day treatment period, and stable…

The two COVID-19 vaccines that recently received emergency approval from the U.S. and other worldwide regulatory agencies are expected to pose little risk to the rare disease community, including to patients with compromised immune systems or those participating in gene therapy studies. That was the message of a recent…

Japan’s Ministry of Health, Labor and Welfare (MHLW) has approved oral Orladeyo (berotralstat), at a daily dose of 150 mg, to prevent hereditary angioedema (HAE) attacks in individuals ages 12 and up. According to the therapy’s developer, BioCryst Pharmaceuticals, Orladeyo is the first prophylactic, or preventive, HAE medication approved…

Variations in the genes KNG1 and XPNPEP1 may be associated with hereditary angioedema (HAE) that occurs in people without any of the mutations that typically cause the disease, a new study suggests. The preliminary findings highlight the genetic complexity of HAE, researchers said. The study, “Deciphering…

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…