Newborn Screening Update Following RFK’s Removal of Advisory Committee +++++++

CLINICAL PERSPECTIVE Newborn Screening Update Following RFK’s Removal of Advisory Committee https://checkrare.com/newborn-screening-update-following-rfks-removal-of-advisory-committee/ Dean Suhr, President and co-founder of the MLD Foundation, discusses newborn screening updates and plans for gaining recommended uniform screening panel (RUSP) approval. Recent Data Highlights Benefits of Sepiapterin in Patients With PKU https://checkrare.com/recent-data-highlights-benefits-of-sepiapterin-in-patients-with-pku/ Nicola Longo, MD, PhD, Professor and Chief of Division of Clinical Genetics at the University of California, Los Angeles, discusses data presented at the 2025 ACMG Annual Clinical Genetics Meeting highlighting the benefits of sepiapterin in patients with classical phenylketonuria (PKU). The Impact of Hemophilia on Women and Girls https://checkrare.com/the-impact-of-hemophilia-on-women-and-girls/ Shellye Horowitz, a patient with hemophilia and advocate, discusses the impact of hemophilia on women and girls. Digital Voice Analysis as a Biomarker of Acromegaly https://checkrare.com/digital-voice-analysis-as-a-biomarker-of-acromegaly/ A recent study published in The Journal of Clinical Endocrinology & Metabolism analyzed the use of digital voice analysis as a biomarker of acromegaly. FORWARD-53 Clinical Trial in Duchenne Muscular Dystrophy Shows Promise https://checkrare.com/forward-53-clinical-trial-in-duchenne-muscular-dystrophy-shows-promise/ Paul Bolno, MD, President and Chief Executive Officer of Wave Life Sciences, discusses positive results from the FORWARD-53 clinical trial evaluating WVE-N531 in patients with Duchenne muscular dystrophy (DMD) amenable to exon 53 skipping. First Treatment (Diazoxide Choline) Approved for Hyperphagia in Prader-Willi Syndrome https://checkrare.com/first-treatment-diazoxide-choline-approved-for-hyperphagia-in-prader-willi-syndrome/ Ashley Shoemaker, MD, Associate Professor of Pediatrics and Pediatric Endocrinology at Vanderbilt University, discusses the approval of Vykat XR (diazoxide choline) for the treatment of hyperphagia in patients ages 4 years and older with Prader-Willi syndrome (PWS). Results From the Phase 1/2 EXPLORE44 Clinical Trial for Duchenne Muscular Dystrophy https://checkrare.com/results-from-the-phase-1-2-explore44-clinical-trial-for-duchenne-muscular-dystrophy/ Aravindhan Veerapandiyan, MD, Assistant Professor of Pediatrics, University of Arkansas and Arkansas Children’s Hospital, discusses results from the phase 1/2 EXPLORE44 clinical trial for Duchenne muscular dystrophy (DMD).