Early Results From the CHORD Clinical Trial in Otoferlin-Related Hearing Loss +++++ +++++

CLINICAL PERSPECTIVES Early Results From the CHORD Clinical Trial in Otoferlin-Related Hearing Loss https://checkrare.com/ipsens-current-rare-disease-therapies-approved-and-in-development-2/ Lawrence Lustig, MD, Professor at Columbia University Medical Center, discusses early results from the CHORD clinical trial testing gene therapy to treat otoferlin-related hearing loss. Lynch Syndrome: A Patient’s Experience With Genetic Testing and Increased Risk of Cancer https://checkrare.com/lynch-syndrome-a-patients-experience-with-genetic-testing-and-increased-risk-of-cancer/ Tiffany Graham Charkosky, author and patient with Lynch syndrome, discusses her experience with genetic testing and her book LIVING PROOF: How Love Defied Genetic Legacy. Ipsen’s Current Rare Disease Therapies: Approved and In Development https://checkrare.com/ipsens-current-rare-disease-therapies-approved-and-in-development/ Christelle Huguet, PhD, Head of Research and Development at Ipsen, discusses the company’s current approved orphan drugs and those in development for rare diseases. New Data on the Use of Givinostat for Treatment of Patients With Duchenne Muscular Dystrophy https://checkrare.com/new-data-on-the-use-of-givinostat-for-treatment-of-patients-with-duchenne-muscular-dystrophy/ Scott Baver, PhD, Vice President of Medical Affairs at ITF Therapeutics, discusses new data on the use of Duvyzat (givinostat) for patients with Duchenne muscular dystrophy (DMD). Diagnosis and Treatment of IgA Nephropathy https://checkrare.com/diagnosis-and-treatment-of-iga-nephropathy/ Jai Radhakrishnan, MD, Nephrologist and Professor at Columbia University Medical Center, discusses diagnosis and treatment of IgA nephropathy (IgAN). Hemolytic Disease of the Fetus and Newborn: Outcomes of Intrauterine Transfusion and Patient Experiences https://checkrare.com/hemolytic-disease-of-the-fetus-and-newborn-outcomes-of-intrauterine-transfusion-and-patient-experiences/ May Lee Tjoa, PhD, Senior Global Medical Affairs Leader: Nipocalimab and Maternal-Fetal Immunology at Johnson & Johnson, discusses data on hemolytic disease of the fetus and newborn (HDFN) from the 2025 ISUOG World Congress on Ultrasound in Obstetrics and Gynecology. Rilzabrutinib Approval for Adult Patients With Immune Thrombocytopenia https://checkrare.com/rilzabrutinib-approval-for-adult-patients-with-immune-thrombocytopenia/ Amit Mehta, MD, Medical Oncologist, discusses data that led to the approval of Wayrilz (rilzabrutinib) for adult patients with immune thrombocytopenia (ITP). Open-Label Extension Data of Del-Zota for Patients With Duchenne Muscular Dystrophy https://checkrare.com/open-label-extension-data-of-del-zota-for-patients-with-duchenne-muscular-dystrophy/ Mike Flanagan, PhD, Chief Scientific Officer at Avidity Biosciences, discusses new data from the EXPLORE44 open-label extension of del-zota for treatment of patients with Duchenne muscular dystrophy (DMD) amenable to exon 44 skipping. ISUOG World Congress 2025: Hemolytic Disease of the Fetus and Newborn https://checkrare.com/isuog-world-congress-2025-hemolytic-disease-of-the-fetus-and-newborn/ Jannine Williams, Compound Development Team Leader at Johnson & Johnson, discusses key takeaways from studies on hemolytic disease of the fetus and newborn (HDFN) presented at ISUOG World Congress 2025. Results From the PEGASUS Clinical Trial of Pegvaliase in Patients With PKU https://checkrare.com/results-from-the-pegasus-clinical-trial-of-pegvaliase-in-patients-with-pku/ Kevin Eggan, PhD, Chief Scientific Officer at BioMarin, discusses new results from the PEGASUS clinical trial of Palynziq (pegvaliase) for treating patients with phenylketonuria (PKU).