This week, numerous studies were published in peer-reviewed journals that highlight some of the innovative work that researchers around the world are doing to advance our understanding of rare conditions. Below are some of the highlights.
Teprotumumab for the Treatment of Active Thyroid Eye Disease
Raymond Douglass and colleagues published their phase III clinical trial showing the effectiveness of teprotumumab to improve proptosis, clinical activity score, diplopia, and quality of life compared to placebo in patients with thyroid eye disease.The US Food and Drug Administration (FDA) recently approved this drug and that approval was largely based on this clinical study. To read the NEJM study click here.
A Systematic Review on the Burden of Illness in Individuals With Tuberous Sclerosis Complex (TSC)
Johann Philipp Zöllner et al reported on their systemic review on the heavy toll tuberous sclerosis complex (TSC) has on patients. The burden of illness varied greatly but substantial costs were associated with most manifestations of the disorder, especially pharmacoresistant epilepsy, neuropsychiatric, renal and skin manifestations. To read the OJRD article, click here.
Tafamidis—A Pricey Therapy for a Not-So-Rare Condition
Drs Jerry Gurwitz and Mathew Maurer wrote a viewpoint article regarding the recently FDA-approved drugs, tafamidis meglumine and tafamidis, to treat cardiomyopathy caused by transthyretin amyloidosis (ATTR-CM). To read the JAMA editorial, click here.
To learn more about ATTR-CM, visit our CME program focused on this rare condition, click here.
Pamrevlumab, an anti-connective tissue growth factor therapy, for idiopathic pulmonary fibrosis (PRAISE): a phase 2, randomised, double-blind, placebo-controlled trial
Luc Richeldi and colleagues published their results from the phse 2 study assessing pamrevlumab in idiopathic pulmonary fibrosis (IPF). IPF is a serious, life-limiting lung disease characterized by fibrosis and scarring of lung tissue with a median survival of 3-5 years after diagnosis. The phase 2 study published in The Lancet shows pamrevlumab to attenuate disease progression. A phase 3 study is currently underway. To read the Lancet article, click here.