News

Children’s National Health System no longer treats just kids. Its Rare Disease Institute, launched in April 2017, has partnered with the National Organization for Rare Disorders (NORD) to become the first of many U.S. “centers of excellence” to look after patients with rare diseases, regardless of age. The effort…

A long-acting, once-a-month treatment of Signifor (pasireotide) normalized cortisol levels in 40% of patients with Cushing’s disease whose disease had recurred after surgery, or who were not candidates for surgery, according to new data from a Phase 3 trial. The safety profiles of the once-monthly regimen proved to…

A rare case of Cushing’s syndrome (CS) in a 17-year-old patient with multiple pituitary adenomas highlights the importance of clinical follow-up in order to determine the best treatment options for patients. The study, “A rare case of multiple pituitary adenomas in an adolescent Cushing disease presenting as a…

The effects of obesity on the diagnosis of Cushing’s syndrome and strategies to alter the traditional approaches have been addressed in a new review study. The study, “Diagnosis and Differential Diagnosis of Cushing’s Syndrome,” appeared in The New England Journal of Medicine. The author…

More therapies are now available for the 30 million or so people with rare diseases in the U.S. than ever before, and millions of dollars are being invested in clinical studies that will test new ways of evaluating — and advancing — potential treatments, including the use of natural history…

A test for cortisone in saliva, collected late at night, or early in the morning after suppression with dexamethasone, was found to be accurate for measuring high levels of cortisol (hypercortisolism), which are believed to cause Cushing’s syndrome. This suggests that only a simple, non-invasive test is needed to monitor…

Researchers have identified a new, quick method for detecting ACTH-producting tumors – called Elecsys – that can improve the cure rates of Cushing’s disease patients undergoing surgery. The study, “Long-term outcomes of tissue-based ACTH-antibody assay–guided transsphenoidal resection of pituitary adenomas in Cushing disease,” was published in the…

As Congress begins debate this week to overhaul the U.S. tax code, lawmakers should leave the Orphan Drug Act (ODA) — and the tax incentives it offers pharmaceutical companies to develop therapies for rare diseases — off the table. That’s the message being pushed by the National Organization for…

Researchers report a new technique for collecting blood samples from tiny veins of the adrenal glands, called super-selective adrenal venous sampling (ssAVS). The technique can be used to hep diagnose diseases marked by excessive release of  adrenal hormones, such as subclinical Cushing’s syndrome (SCS) or primary aldesteronism (PA). The study,…

Thanks to a $10 million endowment from the Li Weibo Charitable Foundation in China, the University of Massachusetts Medical School will soon be able to launch a new institute dedicated to the study of rare diseases such as Cushing’s disease. Li Weibo, the organization’s founder and the parent of a child…