People with X-linked hypophosphatemia (XLH) frequently experience pain, stiffness, and fatigue, which have a significant impact on their physical functioning, mental health, and daily lives, a study reports. They also experience worsening of symptoms over time, making them concerned about the future and worried about having children with…
Even with the coronavirus pandemic ravaging Europe and much of the world, patient advocate Lucia Monaco, PhD, of Italy remains confident that the Paris-based nonprofit she chairs will see the approval of 1,000 new rare disease therapies by 2027. That group, the International Rare Diseases Research Consortium (IRDiRC) —…
One-year treatment with Crysvita (burosumab) led to the normalization of phosphate levels in children with X-linked hypophosphatemia (XLH) and helped improve their growth, a small real-world study shows. The findings provide evidence of Crysvita’s effectiveness beyond clinical trials, and show that the therapy has positive effects without…
Hyperparathyroidism, a condition in which the parathyroid gland produces an excess of parathyroid hormone, is found in 25% of people with X-linked hypophosphatemia (XLH), a study has found. The study, “Hyperparathyroidism in patients with X‐linked hypophosphatemia,” was published in the Journal of Bone and Mineral Research.
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…
In recognition of Rare Disease Day Feb. 29, BioNews Services launched a social media campaign last month asking patients to describe what makes them rare. Running Feb. 7–29, the #WhatMakesMeRare campaign was aimed at uplifting people with rare diseases by encouraging them to share their stories and perspectives. The…
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…
Beginning on Feb. 29, Rare Disease Day, chapters from notable scientific books and clinical review articles covering rare disorders will be available free-of-charge from Elsevier. The offer runs through April 30, and aims to supports work by researchers and clinicians into a better understanding of and treatments for rare diseases, as well…
Starting a 501(c)(3) tax-exempt nonprofit isn’t easy, but the National Organization for Rare Disorders gave a few tips for those looking to begin the complex process in its Feb. 20 webinar. William Whitman…
An abundance of events are afoot around the world to mark Rare Disease Day 2020 on Feb. 29. The activities are focused on heightening awareness about rare diseases and the hundreds of millions of individuals they are thought to affect. Patients, caregivers, and advocates worldwide will sport denim ribbons…
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