News

The teeth of children with X-linked hypophosphatemia (XLH) are marked by defects in mineralization affecting the three layers of hard dental tissue — enamel, dentin and cementum — a small study reports. The study, “Mineralization Defects in the Primary Dentition Associated with X-linked Hypophosphatemic Rickets,” was…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

A Phase 1 trial is enrolling children and adults with X‐linked hypophosphatemia (XLH) to assess the effects of calcitriol, the active form of vitamin D, on kidney function and bone health. Already underway at Massachusetts General Hospital, in Boston, the trial (NCT03748966) is looking to recruit 20…

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 case of a woman diagnosed with X-linked hypophosphatemia (XLH) relatively late in life — after the condition had already taken a substantial toll on her physical health and quality of life — highlights the importance of early diagnosis and physician awareness about the disorder, researchers say. The case…

Switching from conventional therapy to Crysvita (burosumab) leads to clinically relevant reductions in pain and fatigue, and better quality of life, in children with X-linked hypophosphatemia (XLH) ages 5 to 12, according to data from a Phase 3 clinical trial. These findings in patient-reported outcomes add to previous results…

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…

A multidisciplinary approach based on pediatrics, orthopedics, and functional therapy specialties is crucial for managing and treating children and adults living with X-linked hypophosphatemia (XLH), experts emphasized on a recent webinar hosted by the European Pediatric Orthopedic Society (EPOS). In the webinar, “8th EPOS Webinar…