Rare Disease News, Insight, and Clinical Perspective +++ +++ +++

FEATURED ARTICLES Progressive Familial Intrahepatic Cholestasis (PFIC): Diagnosing, Treating, Monitoring https://checkrare.com/progressive-familial-intrahepatic-cholestasis-pfic-diagnosing-treating-monitoring/ Patrick McKiernan, MD, Pediatric Hepatologist at Birmingham Children’s Hospital NHS Foundation Trust and Nadia Ovchinsky, MD, Professor of Medicine at NYU Grossman School of Medicine, discuss the recently published guidance on best practices to diagnose, treat, and monitor patients with progressive familial intrahepatic cholestasis (PFIC). Consider Rare: Suspecting and Diagnosing Fibrodysplasia Ossificans Progressiva (FOP) https://checkrare.com/suspecting-and-diagnosing-fibrodysplasia-ossificans-progressiva-fop/ Ellen Elias, MD, Professor, Pediatrics and Genetics, University of Colorado School of Medicine, and Christiaan Scott, MD, Professor of Medicine at the University of Ottawa, examine best practices to suspect and diagnose this ultra-rare condition. Neuroblastoma: Overview, Curie Scores, and Treatment Options https://checkrare.com/neuroblastoma-overview-curie-scores-and-treatment-options/ Greg Yanik, MD, Clinical Professor at University of Michigan’s C.S. Mott Children’s Hospital, provides an overview of this rare childhood cancer, goals of therapy, using the Curie score, and immotherapy treatments. Neuroblastoma: Evan Foundation https://checkrare.com/neuroblastoma-evan-foundation/ Gavin Lindberg details his family’s experience with neuroblastoma, provides advice to families, and discusses the EVAN Foundation. Improving Health Equity in Hereditary Angioedema (HAE): A Panel Discussion https://checkrare.com/improving-health-equity-in-hereditary-angioedema-hae-a-panel-discussion/ Aleena Banerji, MD, Timothy Craig, DO, and Marc Riedl, MD, provide an overview of the discrepancies in care observed in certain patient populations, as well as a discussion on best practices to reduce those inequalities moving forward. Optimizing Therapeutic Proteins Through PEGylation: Key Parameters and Impacts https://checkrare.com/optimizing-therapeutic-proteins-through-pegylation/ Professors João Gonçalves and Paolo Caliceti discuss how PEGylation represents a major technological advancement in the development and optimization of therapeutic proteins. Watch the DAYBUE® (trofinetide) in Practice Video Series to Hear Expert Insights on the First Treatment for This Rare Disease https://checkrare.com/watch-the-daybue-trofinetide-in-practice-video-series-to-hear-expert-insights/ Rett syndrome thought leaders discuss how DAYBUE® (trofinetide), the first and only FDA-approved treatment for Rett syndrome in adults and pediatric patients 2 years of age and older, plays a role in their patients’ treatment plans, while shedding light on their personal experiences with DAYBUE in their practices. Restless Legs Syndrome Treatment and Guidelines Update https://checkrare.com/restless-legs-syndrome-treatment-and-guidelines-update/ Mark J. Buchfuhrer, MD, discusses clinical practice guidelines update suggesting against the standard use of dopamine agonists for the treatment of restless legs syndrome (RLS).