News

Strongbridge Biopharma recently received a second patent from the U.S. Patent and Trademark Office covering the use of Recorlev (levoketoconazole) for the treatment of Cushing’s syndrome. The patent (No. 9,918,984) is titled “Methods and Compositions for Treating Diabetes, Metabolic Syndrome and Other Conditions” and will be active until Jan. 10,…

Repeat radiation therapy may be a reasonable third-line option for patients with persistent Cushing’s disease, after pituitary surgery and initial radiation therapy, a new study shows. Durable remission was seen in 50 percent of patients who received the treatment, according to the study. The research, titled, “Repeat…

Genetic sequencing and the speed with which it can help diagnose a child’s disease — in addition to revealing the genes that cause at least half of the 7,000 rare diseases currently known — was the focus of a discussion by three top New York geneticists. The Feb. 28 conference,…

The ratio between adrenocorticotropic hormone levels and cortisol levels in the blood is higher among Cushing’s disease patients than in healthy people, a new study has found, suggesting that measurement could be used to help diagnose the disease. Also, higher values at diagnosis could predict if the disease will recur…

Chronic alcoholism and associated magnesium and potassium deficiencies may cause a condition, called pseudo-Cushing’s syndrome, a recent case report from Japan shows. The research, “Hypokalemia associated with pseudo-Cushing’s syndrome and magnesium deficiency induced by chronic alcohol abuse,” was published in the journal CEN Case Reports. Chronic…

When it comes to rare diseases, one that definitely makes the list is spinal muscular atrophy with respiratory distress — SMARD, for short. Hunter Pageau, a 12-year-old boy from North Haven, Connecticut, is one of only 80 people in the world known to have SMARD, a motor neuron disease…

In his 10 months on the job, Commissioner Scott Gottlieb of the U.S. Food and Drug Administration is earning praise for his efforts to make clinical trials for new therapies more flexible and responsive to the needs of rare disease patients. From cystic fibrosis to epidermolysis bullosa, the FDA…

Increases in cortisol secretion, even if mild, induce early heart and blood vessel changes that may increase the risk for cardiovascular disease, according to Italian researchers. The findings continue to support the role of the hormone cortisol in heart disease, and demonstrate the need for carefully monitoring cardiovascular risk in patients…

Intranasal steroid drops used to treat nasal obstruction may cause Cushing’s syndrome and adrenal insufficiency in infants, a case study of two patients suggests. The study, “Iatrogenic Cushing’s syndrome and adrenal insufficiency in infants on intranasal dexamethasone drops for nasal obstruction – Case series and literature review,” was published…

At a time of unprecedented polarization in Congress, two U.S. lawmakers — one Republican, one Democrat — are stressing the urgency of working across the aisle to help the estimated 30 million Americans with rare diseases. Rep. Leonard Lance (R-New Jersey) and Sen. Amy Klobuchar (D-Minnesota) spoke to more…