News

A newly launched non-profit institute is seeking to advance research, and the development of new therapies, for people with rare diseases — a patient community with some of the largest therapeutic needs, but one that is often left behind. Named the Institute for Life Changing Medicines, the project was…

Treatment with the blood thinner enoxaparin within a few hours after curative pituitary surgery may help reduce the risk of blood clots forming in people with Cushing’s disease, a new study suggests. The study “Venous thromboembolic (VTE) prophylaxis in Cushing disease patients undergoing transsphenoidal surgery” was published in…

A newly discovered mutation in a gene called USP8 may contribute to the development of pituitary tumors, which are the underlying cause Cushing’s disease, researchers reported, describing the mutation. Their work also linked tumors with mutations to more aggressive disease than those without mutations. The study, “Genetic…

Participation in clinical trials exposes rare disease patients to financial, physical, and emotional pressures, according to the results of a patient focus group series. “Rare disease trial participants are running an endurance race they are highly motivated to complete, but these incremental burdens negatively impact their ability or willingness to…

A two-surgeon approach to bilateral adrenalectomy — the surgical removal of both adrenal glands — may lead to fewer complications and shorter operating time in patients with ectopic Cushing’s syndrome, compared with other surgical approaches. That finding from a small study, “Adrenalectomy in ectopic Cushing’s syndrome: a retrospective cohort study…

Cushing’s disease may occur secondary to a large pituitary tumor and, in rare cases, cause potassium levels in the blood to be persistently low, a recent case report highlighted. According to its authors, this case serves as a reminder that doctors should suspect Cushing’s when potassium levels remain low…

MRI scans may fail to detect a disease-causing pituitary tumor in up to one third of children and adolescents with Cushing’s disease, a study found. In the study, patients with a negative MRI scan result were less likely to enter in remission after having surgery to remove the pituitary…

The National Organization for Rare Disorders, known as NORD, was named an official charity partner of the 2021 TCS New York City Marathon, which will be held Nov. 7 both in-person and online. “Supporting charitable causes and organizations are a long-standing tradition of the TCS New York City…

Analyzing small amounts of tumor DNA that end up in the bloodstream could be useful for assessing the course of Cushing’s syndrome in patients whose disease is caused by a hormone-producing tumor, a new report illustrates. In the case of a 45-year-old man in France, DNA changes “were well correlated…

The National Alliance for Caregiving, in partnership with Global Genes, has issued a free guidebook, available online, that offers resources and support for caregivers of children with rare diseases. “The Circle of Care Guidebook for Caregivers of Children With Rare and/or Serious Illnesses” was designed…