News

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

First, the bad news: If you’re one of the 30 million or so Americans with a rare disease, you probably have lower immunity to the novel coronavirus than most people. Now, the good news: You already know how to face loneliness and adversity — qualities that make you far stronger…

The Living Rare, Living Stronger Patient and Family Forum, originally set for May 14–16 in Cleveland, Ohio, has been postponed until July 18–20 because of the coronavirus disease COVID-19 pandemic. The event’s sponsor, the National Organization for Rare Disorders (NORD),…

People with Cushing’s syndrome who undergo surgery to remove one or both adrenal glands experience a persistent decrease in kidney function after one month that does not seem to worsen or improve with time, a study has found. The study, “Postoperative renal impairment and longitudinal change…

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) —…

Making incisions through the back of the body, rather than the front, can lessen bleeding and shorten operation time during surgery to remove the adrenal glands, a new study suggests. The study, “Comparison of synchronous bilateral transperitoneal and posterior retroperitoneal laparoscopic adrenalectomy: results of a multicenter study,”…

More than half of the people with Cushing’s syndrome due to masses in both adrenal glands have disease-causing mutations the ARMC5 gene, a small study has found, suggesting that such patients should undergo genetic analysis for this gene. The study, “Allelic Variants of ARMC5 in Patients…

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…

While the diagnosis of Cushing’s syndrome is often based on a low-dose dexamethasone suppression test (DST), test results may be affected by differences in the metabolism of the steroid medication, a study found. The researchers advocated for routine measurement of dexamethasone levels during DST, saying test results should…

Isturisa (osilodrostat) is now approved in the U.S. for adults with Cushing’s disease for whom pituitary gland surgery is not an option or whose disease has returned after surgery, Recordati announced. The therapy is the first U.S. Food and Drug Administration (FDA)-approved medicine…