Iqra Mumal,  —

Study Reports 1st XLH Case Due to Mutations in PHEX, NPR2 Genes

A Chinese patient has developed the first known case of X-linked hypophosphatemia (XLH) due to mutations in both the PHEX and NPR2 genes, a study says. The study, “Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation,” was published in the Journal of…

Treatment Strategy for XLH Changing with Recent Introduction of Crysvita, Study Reports

While conventional treatment combining phosphate supplementation with active vitamin D is effective for a large number of people with X-linked hypophosphatemia (XLH), some patients develop treatment-associated complications or fail to respond, a review study reports. In these cases, considerable hope is being placed on treatment with Crysvita (burosumab),…

Rising Rate of XLH Seen in UK Since 1995, Possibly Due to Better Testing, Study Says

The prevalence of X-linked hypophosphataemia (XLH) rose in both children and adults across the United Kingdom between 1995 and 2016, a study found, likely due to improvements in clinical testing. Mortality rates were higher in elderly people with XLH than in people of similar age without this disorder serving…

FDA Approves XLH Treatment with Crysvita for Patients 6 Months and Older

The U.S. Food and Drug Administration (FDA) approved a label update for Crysvita (burosumab) to cover treatment of X-linked hypophosphatemia (XLH) for patients 6 months and older. This update includes data showing improvement in stiffness, continued healing of fractures, and maintenance of efficacy with longer-term use of Crysvita…