The National Organization for Rare Disorders (NORD) is seeking individuals willing to share real-life experiences with rare diseases to speak at its upcoming virtual Living Rare, Living Stronger NORD Patient and Family Forum. The interactive, patient-focused forum will be held online June 26-27. The deadline to apply for…
Three new mutations in the PHEX gene — which provides instructions for making an enzyme primarily active in the bones and teeth — were found in a study of Polish children with X-linked hypophosphatemia (XLH). The study also highlighted the importance of early treatment for stunted growth, common in XLH.
The annual EURORDIS Photo Award contest is inviting people worldwide to visually express what life is like with a rare disease, while raising awareness through their work of these disorders. Submissions for next year’s awards are open until Jan. 31. The competition is organized by France-based EURODIS, an alliance…
Vitamin D dietary supplements can promote bone mineralization without changing phosphate levels or causing calcium to rise to unhealthy levels and form solid deposits in the kidneys. That finding, from a study in a mouse model of X‐linked hypophosphatemia (XLH), suggests that vitamin D supplements, when used alone or…
To empower and equip members of the rare disease community to engage state leaders in matters of importance to patients and their families, the National Organization for Rare Disorders (NORD) has launched an initiative across the U.S. Its goal is to establish a Rare Disease Advisory Council (RDAC)…
Abnormal activity of the parathyroid glands can change the extent to which phosphate is reabsorbed by the kidneys in people with X-linked hypophosphatemia (XLH), a new study indicates. The study, “Renal Phosphate Handling: Independent Effects of Circulating FGF23, PTH, and Calcium,” was published in the…
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…
A new genetic sequencing panel could be used to help diagnose X-linked hypophosphatemia (XLH) and related conditions. The panel was described in the European Journal of Endocrinology, in the study “Validation of a next-generation sequencing (NGS) panel to improve the diagnosis of X-linked hypophosphataemia (XLH) and…
Leaders in the U.S. rare disease community came together recently for a webinar to present helpful information on how to start a nonprofit and patient registry. They shared about how their respective organizations came to be, as well as the benefits of creating patient registries and how they can help…
The recommended starting dose of Crysvita (burosumab) is too low to effectively manage X-linked hypophosphatemia (XLH) in children with the rare inherited disorder, a Swedish study indicates. That dose, of 0.4 mg/kg, is insufficient to normalize the phosphate levels in the bodies of children with XLH, according to…
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