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…

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…

The presence of persistent hypoparathyroidism should prompt physicians to consider a possible diagnosis of autoimmune polyglandular syndrome type 1 (APS-1), a rare genetic disorder, even in the absence of other typical symptoms, according to a case report. The study, “Hypoparathyroidism as the single major component for decades…

The case of a 71-year-old man with hypoparathyroidism and low calcium that was induced by the cancer immunotherapy Keytruda (pembrolizumab) was described in a recent study. This is the third reported instance of Keytruda-induced hypoparathyroidism, highlighting…

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…

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…

Ascendis Pharma anticipates it will announce top-line data from a new Phase 3 clinical trial of TransCon PTH, the company’s investigational hormone replacement therapy for hypoparathyroidism, before the end of the year, according to a recent company update. The study, called PaTHway (NCT04701203), seeks to assess the…

The U.S. Food and Drug Administration (FDA) has granted orphan drug designation to AZP-3601, an investigational therapy for hypoparathyroidism by Amolyt Pharma. The designation is given to treatment candidates with the potential to be safe and effective in rare diseases, defined in the U.S as those affecting fewer than…

The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…

People with hypoparathyroidism in Argentina, particularly those with kidney problems and high levels of phosphate in the blood, frequently experience inadequate disease control, a study found. The study is the first to analyze hypoparathyroidism in Latin America, researchers said. Titled “Hipopara-Red, Real Life Experience in 322…