Screening newborns for genetic diseases with treatments that can prevent crippling or deadly progression, especially for rare disorders, has a ways to go in the United States. No state today tests for all 35 disorders recommended under a federal screening panel, and even in those that come close, rare…
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Treatment with Signifor (pasireotide) over 12 months reduced urinary cortisol levels and enabled full disease control in a subset of 14 patients with Cushing’s disease who were monitored at an Italian center and taking part in a Phase 3 trial, a study has found. The study, “…
Oklahoma suffers more tornadoes than any other state, has the highest per-capita rate of women in U.S. prisons, ranks second in the number of teen births per 100,000 teenage girls, and has the nation’s third-highest rate of uninsured residents — with 13.9% of all Oklahomans lacking health coverage. As if…
People with Cushing’s disease who have a bilateral adrenalectomy should be regularly assessed for their adrenocorticotrophic hormone (ACTH) levels, and undergo periodic magnetic resonance imaging (MRI) analysis of residual tumors, to help predict and possibly detect Nelson’s syndrome, according to a new study. The findings also showed…
Repeat transsphenoidal surgery (TSS) in patients experiencing recurrence of Cushing’s disease after the initial procedure is effective and associated with high rates of sustained remission, according to a new study. The research, “Outcomes After Repeat Transsphenoidal Surgery for Recurrent Cushing Disease: Updated,” appeared in the journal…
Recordati has acquired worldwide rights over Novartis‘ investigational therapy osilodrostat (LCI699), being developed for the treatment of endogenous Cushing’s disease. The agreement also covers Signifor (pasireotide), an approved treatment for adults with Cushing’s disease who failed surgery or who were not eligible for surgery,…
A new international consortium based in Paris, and funded largely by the 28-member European Union, intends to speed the diagnosis of rare diseases, while also accelerating the development of treatments for the 95% of such illnesses that currently don’t have one. The European Joint Programme on Rare Diseases (EJP…
A pooled analysis of studies and data from a single center in Brazil suggest that people with Cushing’s disease (CD) who carry USP8 mutations, its major genetic cause, have differing outcomes, including in disease recurrence after surgery, from those who do not. But a robust and more certain analysis…
Pituitary gland tissue analysis during surgery can help confirm a Cushing’s disease diagnosis and define the best strategy to treat patients with small pituitary tumors, according to a study. The study, “The Utility of Intraoperative Cytological Smear and Frozen Section in the Surgical Management of Patients with…
When Cushing’s disease is not caused by mutations in the USP8 gene — the main driver of ACTH-producing pituitary adenomas — it’s likely that mutations in USP48 or TP53 are to blame, a new study found. The study, “Driver mutations in USP8 wild type Cushing’s disease,” was published in the journal Neuro-Oncology.
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