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, “…
Adults with X-linked hypophosphatemia (XLH) report experiences of chronic pain, fear of falling, and lack of credence given by healthcare providers. To counterbalance these obstacles, patients use resilience, tenacity and creative approaches, a small study has found. The study, “…
The Black Women’s Health Imperative (BWHI) recently created a Rare Disease Diversity Coalition focused on reducing racial disparities in the rare disease community. Getting a timely and accurate diagnosis for a disease that few people — sometimes even physicians — have heard of is challenging on its own merit.
Adults with X-linked hypophosphatemia (XLH), especially those younger than 45, have an increased likelihood of excess weight and obesity compared to the general population in France, a study found. Researchers have recommended lifestyle changes and physical activity for these patients. The study, “SUN-336 Obesity and Impaired Glucose Metabolism…
While the ongoing COVID-19 pandemic won’t have much of an impact on cash available for new biotech startups, it has begun to cause delays in the development of gene therapies to treat a variety of rare diseases. That’s the consensus of industry experts who spoke in a May 26 webinar…
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, “…
European authorities must step up efforts to screen babies for a multitude of genetic disorders, a panel of experts suggested during a May 14-15 online medical conference. The session was part of the 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was to have occurred…
Dara Riva always had a rule that her 10-year-old son could play video games only once a week. But then the COVID-19 pandemic struck, and her perspective changed. Riva’s son, Maximilian, has cystic fibrosis (CF), making him particularly susceptible to COVID-19 and the complications that can arise from it.
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…
Eurordis, a Paris-based coalition of national rare disease associations across Europe, hosted its first all-virtual conference, bringing some 1,500 delegates from 57 countries together online during the COVID-19 pandemic. The 10th European Conference on Rare Diseases & Orphan Products (ECRD2020) — which was set for May 14–15 in…
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