CLINICAL PERSPECTIVES: CAMP4 Therapeutics’ Programs For Urea Cycle Disorders and SYNGAP1 +++++ +++++ +...

CLINICAL PERSPECTIVES CAMP4 Therapeutics’ Programs For Urea Cycle Disorders and SYNGAP1 https://checkrare.com/camp4-therapeutics-programs-for-urea-cycle-disorders-and-syngap1/ Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, discusses the company’s current drug development programs. A Patient’s Diagnostic Journey With Idiopathic Pulmonary Hemosiderosis (IPH) https://checkrare.com/a-patients-diagnostic-journey-with-idiopathic-pulmonary-hemosiderosis-iph/ David Curren, patient advocate and board member for Breath of Hope Rhode Island, discusses his grandson’s diagnostic journey with idiopathic pulmonary hemosiderosis. Navigating the Challenges of the Orphan Drug Market https://checkrare.com/navigating-the-challenges-of-the-orphan-drug-market/ Johanna Rossell, Senior Vice President and General Manager of Rare Diseases at Sumitomo Pharma America, discusses best practices for navigating challenges of the orphan drug market and provides personal experience through her work with congenital athymia. Mental Health and the Rare Disease Community https://checkrare.com/mental-health-and-the-rare-disease-community/ Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, discusses how industry partners can support the mental health of rare disease communities. Urea Cycle Disorders: Overview and Developing Novel Therapies https://checkrare.com/urea-cycle-disorders-overview-and-developing-novel-therapies/ Yuri Maricich, MD, Chief Medical Officer of CAMP4 Therapeutics, provides an overview of urea cycle disorders (UCDs) and discusses developing novel therapies. Newly Approved Treatment Targets Underlying Cause of IgG4-Related Disease https://checkrare.com/newly-approved-treatment-targets-underlying-cause-of-igg4-related-disease/ Arezou Khosroshahi, MD, Associate Professor of Medicine at Emory University School of Medicine, discusses the approval of Uplizna (inebilizumab-cdon) for treatment of immunoglobulin G4-related disease (IgG4-RD). Positive Safety and Efficacy Data for Intrathecal Administration of Gene Therapy for SMA https://checkrare.com/positive-safety-and-efficacy-data-for-intrathecal-administration-of-gene-therapy-for-sma/ Norman Putzki, MD, Global Development Head of Neuroscience and Gene Therapy at Novartis, discusses positive safety and efficacy data for OAV101 IT, an investigational gene therapy for spinal muscular atrophy (SMA). Challenges Faced by Rare Disease Patients in India https://checkrare.com/challenges-faced-by-rare-disease-patients-in-india/ Ramaiah Muthyala, PhD, Research Associate Professor at University of Minnesota and President and CEO of Indian Organization for Rare Diseases (IORD), discusses the challenges faced by rare disease patients in India. Global Genes’ Patient and Advocate Initiatives https://checkrare.com/global-genes-patient-and-advocate-initiatives/ Daniel DeFabio, Director of Community Engagement and Education at Global Genes, Co-Founder of Disorder: The Rare Disease Film Festival, and rare disease father, discusses Global Genes’ patient and advocate initiatives. Ongoing Research for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay https://checkrare.com/ongoing-research-for-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay/ Sonia Gobeil, co-founder of Ataxia of Charlevoix-Saguenay Foundation, discusses their organization and ongoing research for autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). 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. ATLG Versus ATG in Graft-Versus-Host Disease https://checkrare.com/atlg-versus-atg-in-graft-versus-host-disease/ A new study published in American Journal of Hematology compared two treatment options for Graft versus host disease (GVHD). Efficacy of Nipocalimab To Treat Myasthenia Gravis: Updates From Vivacity-MG3 Trial https://checkrare.com/efficacy-of-nipcalimab-to-treat-myasthenia-gravis-updates-from-vivacity-mg3-trial/ Sindhu Ramchandren, MD, Executive Medical Director, Neuroscience and Disease Cluster Lead for Neuroimmunology and Neuromuscular Disorders at Johnson & Johnson, discusses updated results from the Vivacity-MG3 clinical trial in patients with generalized myasthenia gravis (MG). Effect of Increased IgG Levels on Prognosis in Primary Biliary Cholangitis https://checkrare.com/effect-of-increased-igg-levels-on-prognosis-in-primary-biliary-cholangitis/ A recent study published in Liver International analyzed patients with primary biliary cholangitis (PBC) who presented with higher IgG levels at diagnosis. Safety and Efficacy of Zilucoplan to Treat Myasthenia Gravis: Results from the RAISE Trial https://checkrare.com/safety-and-efficacy-of-zilucoplan-to-treat-myasthenia-gravis-results-from-the-raise-trial/ Michael Weiss, MD, Department of Neurology, University of Washington Medical Center, discusses results from the RAISE clinical trial testing the safety and efficacy of zilucoplan in patients with myasthenia gravis (MG). Efficacy of Atrasentan To Treat Patients With IgA Nephropathy https://checkrare.com/efficacy-of-atrasentan-to-treat-patients-with-iga-nephropathy/ Richard Lafayette, MD, Professor of Medicine, Nephrology and Director of the Glomerular Disease Center at Stanford University Medical Center, discusses the recent approval of Vanrafia (atrasentan) for patients with IgA nephropathy (IgAN). 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. New FDA-Approved C3 Glomerulopathy (C3G) Treatment Targets Underlying Cause of Disease https://checkrare.com/new-fda-approved-c3-glomerulopathy-c3g-treatment-targets-underlying-cause-of-disease/ Carla Nester, MD, Professor of Pediatrics-Nephrology at the University of Iowa, discusses the recent U.S. Food and Drug Administration (FDA) approval of iptacopan as the first and only treatment of adults with C3 glomerulopathy (C3G). Clinical Outcomes in Peripheral Ulcerative Keratitis https://checkrare.com/clinical-outcomes-in-peripheral-ulcerative-keratitis/ A recent study published in the American Journal of Ophthalmology observed clinical outcomes in patients with peripheral ulcerative keratitis (PUK). 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. Outcomes of Relapsed or Refractory Diffuse Large B-Cell Lymphoma Treated With R-GemOx https://checkrare.com/outcomes-of-relapsed-or-refractory-diffuse-large-b-cell-lymphoma-treated-with-r-gemox/ A recent study evaluated outcomes of relapsed or refractory diffuse large B-cell lymphoma (DLBCL) patients treated with R-GemOx.