News

Disruptions in blood sugar metabolism and hypercortisolism — excessive levels of the hormone cortisol in the blood — are both linked to a higher risk of hyperlipidemia, or having high levels of fatty molecules circulating in the bloodstream, in people with Cushing’s disease, a study found. Hyperlipidemia, in turn,…

Diagnosed with sickle cell disease as a 6-month-old, Tristan Lee has faced a lot of challenges over his 37 years of life. But from a young age, he also learned how to turn those trials into triumphs. At age 9, a stroke due to his disease left him paralyzed…

For years before and after their diagnosis, people with Cushing’s disease use more psychotropic medications — those that affect mood, thoughts, or perception — for mental health problems than their healthy peers, a study in Sweden found. Notably, patients experiencing long-term disease remission still showed higher use of antidepressants…

Rare Disease Day at NIH, organized by the National Institutes of Health (NIH) and taking place on March 1, will feature panel discussions, patient stories, research updates, TED-style talks, and a presentation by a Nobel laureate recently recognized for her work on a gene editing tool. The free, virtual…

Biomarkers in a majority of Cushing’s syndrome patients with surgically induced disease remission showed a high rate of bone turnover and greater bone mineral density one and two years later, a study reports. Before treatment, these patients were found to have greater bone degradation…

People with rare disorders have a worse healthcare experience than those affected by chronic diseases, according to the results of an international survey conducted by Eurordis-Rare Diseases Europe. Indeed, rare disease patients overall give their healthcare experience a medium-low rating, of 2.5 on a scale of 1 to 5,…

Crinetics Pharmaceuticals is launching a Phase 1 clinical trial to evaluate the safety and tolerability of oral CRN04894, an inhibitor of adrenocorticotropic hormone (ACTH) activity, in healthy volunteers. The candidate therapy is being developed for Cushing’s disease and congenital adrenal hyperplasia (CAH), both characterized by abnormally high levels of…

Scores of virtual events are afoot around the world to mark Rare Disease Day 2021 on Feb. 28. 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…

The cancer medicine bexarotene may hold promise for treating Cushing’s disease, a study suggests. The study, “Targeting the TR4 nuclear receptor with antagonist bexarotene can suppress the proopiomelanocortin signalling in AtT‐20 cells,” was published in the Journal of Cellular and Molecular Medicine. Cushing’s disease is caused…

While progress was made last year on newborn screening and other policy issues critical to rare disease patients, a “State Report Card” argues that many concerns — notably out-of-pocket costs for prescription medicines and access to affordable comprehensive care — still need attention. Those were the findings of the…