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…

Persistent Hypoparathyroidism May Merit APS-1 Diagnosis

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…

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…

TransCon PTH Phase 3 Clinical Trial Moving Forward

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…

AZP-3601 Earns FDA’s Orphan Drug Designation

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…