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…
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…
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…
The Virtual XLH Week 2020, a series of online events bringing together people with X-linked hypophosphatemia (XLH), their families, caregivers, and healthcare professionals, is open for registration. Organized by the XLH Network, the virtual week will run Oct. 3–10. Those wishing to take part need to register here…
X-linked hypophosphatemia (XLH) can cause inflammation of ligaments, tendons, or joint capsules where they attach to bone — a condition called enthesopathy — and result in ankle pain, a case study suggests. The study, “Alternative causes of ankle pain in a patient with enthesopathy and X-linked hypophosphataemia,”…
A recent ultrasound technique, called bi-directional axial transmission (BDAT), is a radiation-free way to help evaluate bone health and monitor treatment response in people with X-linked hypophosphatemia (XLH), a study suggests. The study, “Decreased Compressional Sound Velocity Is an Indicator for Compromised Bone Stiffness in X-Linked Hypophosphatemic…
Better understanding of disease progression during adulthood and identifying effective treatments and symptom management approaches are top research priorities for X-linked hypophosphatemia (XLH) and other rare musculoskeletal disorders that were identified in a survey of patients, caregivers, and healthcare professionals. The study reporting the results, “…
Novel mutations in the PHEX gene, the underlying cause of X-linked hypophosphatemia (XLH), do not aggravate the severity of the disease in children, a study from China shows. Certain mutations, however, affected trafficking of the PHEX protein inside cells, supporting the role of protein location on disease development…
The number of treatments for children with rare diseases has grown over the past decade, according to a new study. However, despite the increase, nearly 7,000 rare diseases are still lacking treatment. And federal incentives to boost treatment development for these rare diseases have primarily focused not on creating new…
A mutation in a region of the PHEX gene — a region containing no information to make proteins — leads to mild X-linked hypophosphatemia (XLH), especially in females, compared to variants in other regions of the same gene, researchers have found. This finding presents challenges for diagnosis and…
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