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A case study diagnosing sarcoidosis upon autopsy in a patient with acute respiratory distress syndrome (ARDS) of unknown cause highlights the importance of physicians taking into account this uncommon disease association for quicker diagnosis and treatment. The study, “Sarcoidosis Presenting as Acute Respiratory Distress Syndrome,” was…

The U.S. Food and Drug Administration (FDA) is updating its 2015 draft guidelines for drug discovery in rare diseases, with new guidance on natural history — how disorders such as spinal muscle atrophy (SMA) run their course if untreated — the choice of “efficacy endpoints” in clinical…

Deaths attributed to sarcoidosis as the primary underlying cause increased between 1999 and 2016 in the United States, according to a recent observational study. The study, “Sarcoidosis deaths in the United States: 1999–2016,” published in the journal Respiratory Medicine, compared death rates among different regions, races, genders, and…

Two cardiologists in the Netherlands are using an artificial intelligence (AI) tool called the VMS Heart Analysis System, developed by Ventripoint Diagnostics, for the early diagnosis of pulmonary hypertension in sarcoidosis patients. With this tool, Marco Post, MD, PhD, and Marloes Huitema, MD, at the St. Antonius…

A research team at Yale School of Medicine successfully treated a person with disfiguring sarcoidosis with Xeljanz (tofacitinib) — an existing approved treatment against rheumatoid arthritis — resulting in a near-complete disappearance of skin lesions. The findings were published in the New England Journal of Medicine in an…

Middle-aged adults with impaired lung function, such as people with sarcoidosis, are at higher risk of dementia and mild cognitive impairment, according to a long-term follow-up study. The study, “Impaired Lung Function, Lung Disease and Risk of Incident Dementia” was published in the American Journal of…

Better quality of life and greater functionality are the most important treatment goals for people with sarcoidosis, according to a large-scale survey of patient perspectives. Survey results are expected to be included in European Respiratory Society (ERS) guidelines to be released this year. They were reported in “…

Cash-strapped governments across the 28-member European Union are struggling to control runaway healthcare expenditures — at exactly the same time as the promise of new but expensive therapies to treat rare diseases has never been greater. That’s the paradox faced by pharmaceutical companies as well as patient advocacy groups in…

After the U.S. Food and Drug Administration accepted aTyr Pharma‘s investigational new drug application for ATYR1923, the company announced it will initiate a Phase 1b/2a clinical trial in patients with pulmonary sarcoidosis. The company will collaborate with the Foundation for Sarcoidosis Research (FSR) for the…

Low levels of white blood cells in the blood — a condition known as lymphopaenia — could be a useful, noninvasive biomarker for the diagnosis of ocular sarcoidosis, a study reports. The study, “Lymphopaenia as a predictor of sarcoidosis in patients with a first episode of uveitis,”…