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Register Now for Global Genes’ RARE Patient Advocacy Summit

Registration is now open for Global Genes‘ 2021 RARE Patient Advocacy Summit. This year’s hybrid event will be livestreamed from California Sept. 27-29, and some seats also are available for attending the event in person in San Diego. “Here you’ll have the opportunity to connect and engage with others…

Oral ACTH Blocker Safely Reduces Cortisol, Early Data Show

CRN04894, a first-in-class, investigational oral medication to treat Cushing’s disease, demonstrated pharmacologic proof-of-concept with a dose-dependent suppression of cortisol, according to data from a Phase 1 study. CRN04894, developed by Crinetics Pharmaceuticals, is designed to block the interaction (antagonist) between the MC2R receptor, found specifically on the…

NORD Rare Disease Summit, Online Oct. 18-19, Open for Registration

Registration is now open for the 2021 Rare Diseases and Orphan Products Breakthrough Summit, which will be held virtually Oct. 18–19. The event, also known as the National Organization for Rare Disorders (NORD) Summit, brings the rare disease community together to network and discuss developments in treatments and research…

Muscle Loss Common in Women in Long-term Remission

Loss of muscle mass, also known as sarcopenia, is common among people with Cushing’s syndrome in long-term remission, and is associated with a poorer quality of life, a study reported. Its researchers also found the Sarcopenia Index, a blood test that can be used to estimate a patient’s muscle…

Advocates Lobby US Congress During Virtual Rare Disease Week

More than 600 people participated in the 10th annual Rare Disease Week on Capitol Hill 2021, held virtually July 14–22, to advocate for the rare disease community. Hosted by the EveryLife Foundation’s Rare Disease Legislative Advocates (RDLA) program, the event brings together community members from across the U.S. to…

Psychosis From Cushing’s Treated With Surgery Plus Metopirone

A young woman with psychosis stemming from Cushing’s disease made a complete recovery through a combination of brain surgery and Metopirone (metyrapone) treatment, according to a case report. The researchers noted that Cushing’s disease is challenging to diagnose and often occurs alongside neuropsychiatric symptoms. Catching and treating…

US Patient Groups Give Thumbs-Up to Rule Against Surprise Billing

The National Organization for Rare Disorders (NORD) is applauding the Biden administration for announcing a rule to protect consumers from surprise medical billing, in a joint statement with 26 other U.S. patient organizations. The interim final rule will implement patient protections required by the No Surprises Act. Surprise…