Marta Figueiredo, Managing Science Editor —

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,…

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…

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…

The first wave of COVID-19 in Europe severely disrupted access to care and raised stress and anxiety in people with rare diseases, negatively affecting their health and well-being, according to a survey conducted by Eurordis-Rare Diseases Europe. “People living with rare diseases in Europe have found themselves caught as collateral…

Complete clinical and genetic analyses are needed to correctly diagnose X-linked hypophosphatemia (XLH), according to the case study of a woman whose disease was misdiagnosed as osteoporosis for years. The case report, “Low Bone Mineral Density Does Not Equal Osteoporosis: The Finding of XLHR with a Novel…

Treatment for nearly two years with Crysvita (burosumab) continued to maintain normal blood levels of phosphate and was found to be safe in adults with X-linked hypophosphatemia (XLH), according to final data from a Phase 3 trial. The findings were published in an article, “…

A new technique of osteotomy — a surgery in which bone is cut to allow repositioning — may be an effective approach to correct severe bowed legs in people with X-linked hypophosphatemia (XLH), a case report suggests. The report also highlighted the importance of early XLH diagnosis to…

The burden of X-linked hypophosphatemia (XLH) is centered on treatment in childhood, expands to psychological impact and other factors in adolescence, and shifts in adulthood to the need for other interventions and mobility, a study reports. These findings, which were based on responses primarily from patients and caregivers in…