News

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…

An increase in glucose uptake by Cushing’s disease-associated pituitary tumors could improve their detection, new research shows. The study, “Corticotropin releasing hormone can selectively stimulate glucose uptake in corticotropinoma via glucose transporter 1,” appeared in the journal Molecular and Cellular Endocrinology. The study’s senior author was Dr.

The glucocorticoid receptor antagonist CORT125134 is safe and has shown preliminary signs of efficacy in healthy volunteers participating in a Phase 1 trial, say researchers in England. Their study, “Assessment of Safety, Tolerability, Pharmacokinetics, and Pharmacological Effect of Orally Administered CORT125134: An Adaptive, Double-Blind, Randomized, Placebo-Controlled Phase 1 Clinical…

A type of precision radiation therapy, called stereotactic radiosurgery (SRS), helped patients with Cushing’s disease (CD) control hypercortisolism. It may be a treatment alternative for those unable to undergo surgery or whose disease recurs after surgery, a retrospective analysis reported. The study, “Stereotactic Radiosurgery for Cushing’s Disease: Results of…

Late-night measures of cortisol levels in saliva may not be all that helpful in diagnosing Cushing’s syndrome, a group of physicians discovered upon learning that a difficult to diagnose patient had manipulated the samples. Although this behavior is extremely rare, the research team from the University of Calgary in…