News

A violinist with vasculitis, two Texas politicians and a pharmaceutical company whose marijuana-derived therapy helps kids with Dravet syndrome were among winners of the 2019 Rare Impact Awards. Officials of the National Organization for Rare Disorders (NORD) presented the awards during a June 22 dinner attended by…

Europe’s umbrella organization for 800 rare disease associations has developed a sweeping initiative to help the continent’s 30 million rare disease patients and their caregivers learn about their conditions, find assistance and receive treatment. Eurordis-Rare Diseases Europe hopes to improve the current piecemeal treatment and support program with a holistic,…

People with rare diseases know that the right government policies can make a big difference in the quality of their own lives, and those of their caregivers. But most lawmakers aren’t experts in even one well-known disease — let alone the world’s estimated 7,000 rare disorders. So how does the…

  Researchers have found that there is a gap in scientific knowledge regarding the management of post-thyroidectomy hypoparathyroidism. The study, “Calcium, vitamin D or recombinant parathyroid hormone for managing post-thyroidectomy hypoparathyroidism,” was published in the Cochrane Database of Systematic Reviews. Hypoparathyroidism is a common complication after…

Although treatment with dexamethasone before thyroid surgery does not significantly prevent hypoparathyroidism and excess calcium following the procedure, the frequency of hypoparathyroidism after surgery tended to be lower with dexamethasone treatment, a clinical study has found. Results of the study, “Preventive Effect of Dexamethasone Therapy on the…

Researchers have mapped in detail the molecular structure and dynamics of the cell receptor that “reads” the signals sent by the parathyroid hormone (PTH), which is defective in people  with hypoparathyroidism. The new insights may help develop more effective treatments with fewer side effects to modulate the activity of this…

RaDaR, the catchy new name for the U.S. government-run Rare Diseases Registry Program, aims to help patient advocacy groups with limited resources build their own disease registries. The site was developed by the National Center for Advancing Translational Sciences (NCATS), a division of the National Institutes of…

Ascendis Pharma is planning the design of its upcoming Phase 2 clinical trial intended to assess the efficacy and safety of its proprietary, investigational TransCon PTH therapy in adults with hypoparathyroidism. The latest data from the TransCon PTH clinical program was…

With 250 rare diseases newly identified every year, scientists can barely keep up — even as the healthcare system fails millions of Americans whose rare diseases have already been diagnosed. That’s the warning from Christopher P. Austin, MD, director of the National Center for Advancing Translational Studies (NCATS) at…

Long-term use of recombinant human parathyroid hormone, or rhPTH(1-84), improves mineral balance and normalizes the levels of calcium in the urine of people with chronic hypoparathyroidism, a Phase 3 trial shows. The latest trial findings were discussed at the 28th Annual Scientific & Clinical Conference of the…