The prevalence of X-linked hypophosphatemia (XLH) in the Brazilian state of Paraná is lower than elsewhere in the world, at about five cases per million inhabitants, according to a new study. This is the first study to estimate the prevalence of XLH in Latin America, and it indicates that…
The National Organization for Rare Disorders (NORD)’s RareLaunch training program will host two days of free virtual workshops in December, with the aim of empowering leaders to start non-profit organizations and research programs to help people with rare diseases. “The RareLaunch program is central to NORD’s mission and history — community…
Oral health problems lead to functional limitations, pain, disability and psychological discomfort in adults with X-linked hypophosphatemia (XLH), a study has found. A multidisciplinary approach with regular dental examinations to identify early complications, preserve teeth, and prevent further treatments is recommended by researchers. The study,”…
A photo of a bespectacled young boy, his red baseball cap slightly askew as he enjoys time outside, will be featured on the front cover of an upcoming calendar in the “Same But Different” contest to raise awareness about rare disorders. “A Lovely Day Out in Kew Gardens,”…
A mouse model of X-linked hypophosphatemia (XLH) that mimics the skeletal alterations seen in human patients may be a valuable tool to test new therapies that aim to prevent bone and joint complications in XLH, scientists say. The study, “Development of Enthesopathies and Joint Structural Damage in a…
A majority of rare disease patients using telehealth during the COVID-19 pandemic thought the experience positive, and many would like the option of continuing its use in future appointments, a series of surveys found. The surveys were conducted by the National Organization for Rare Disorders (NORD) and involved more than 800…
People with hypophosphatemic rickets (HR) may experience yearslong delays in getting a confirmed diagnosis of their condition, undergoing a multitude of clinical visits and evaluations, according to a report detailing eight patient cases. The report also describes two cases in which tumors caused hypophosphatemic rickets. The researchers believe that…
Same But Different, a nonprofit U.K. group that uses art for social change, is inviting people to choose their favorite photographs in a calendar contest to heighten awareness of rare diseases, including amyotrophic lateral sclerosis (ALS). The organization’s panel of judges has pared the number of contest submissions…
The European Commission (EC) has expanded the approval of Crysvita (burosumab) to treat all adolescents and adults with X-linked hypophosphatemia (XLH). The decision follows a recommendation by the…
Children with X-linked hypophosphatemia (XLH) show a diminished growth curve as 1-year-olds relative to healthy toddlers, and their relative rate of growth progressively diminishes through early adolescence, a study reported. These data provide a reference to evaluate the effectiveness of new…
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