CIENCIASMEDICASNEWS

viernes, 6 de marzo de 2026

FEATURED ARTICLES Current Status of Gene Therapies in Rare Neuromuscular Disorders https://checkrare.com/current-status-of-gene-therapy-in-rare-neuromuscular-disorders/ Alan Beggs, PhD and Julie A Parsons, MD, discuss the current status of gene therapies in rare neuromuscular disorders. Current Status of Gene Therapy in Lysosomal Storage Disorders https://checkrare.com/current-status-of-gene-therapy-in-lysosomal-storage-disorders/ Nicola Longo MD, PhD and Mark Roberts, MD, discuss the current status of gene therapies in lysosomal storage disorders. Catching the Clues, Changing the Course of Lysosomal Storage Disorders https://checkrare.com/catching-the-clues-changing-the-course-of-lysosomal-storage-disorders/ Yoshikatsu Eto, MD, PhD, Nicole Muschol, MD, Patrício Aguiar, MD, and Robert Hopkin, MD, explore the patient journey across the lysosomal storage disorder (LSD) continuum, focusing on persistent gaps in recognition, diagnosis, timely treatment initiation, and long-term care. The Genetics of Epilepsy: The Importance of Identifying Underlying Causes https://checkrare.com/the-genetics-of-epilepsy-the-importance-of-identifying-underlying-causes/ Isabella Herman, MD, PhD, and Tara Adams, mother of two daughters with epilepsy discuss the challenges of accurate diagnosis and treatment of epilepsy. Survey Finds Wide-Ranging Impact of X-Linked Hypophosphatemia (XLH) on Patient Experiences https://checkrare.com/survey-finds-wide-ranging-impact-of-x-linked-hypophosphatemia-on-patient-experiences/ Al Freedman, PhD, Rare Disease Psychologist and Rare Dad, and Jill H. Simmons, MD, Endocrinologist at Vanderbilt University Medical Center in Nashville, Tennessee highlight the burden of XLH on personal finances and out-of-pocket costs, overall health—physical, mental, and social—and access to expert care.

Precision Oncology in HER2-Mutated NSCLC: Strategies for Today and Tomorrow Authors: Yong Fang, MD; Hye Ryun Kim, MD, PhD; Hibiki Udagawa, MD, PhD

https://www.medscape.org/viewarticle/precision-oncology-her2-mutated-nsclc-strategies-today-and-2025a100105r?page=1&uac=148436CN&src=mkmcmr_driv_stan_mscpedu_260306-OUS-HONC-precision-oncology-her2-mutated-nsclc-strategies-today-and-2025a100105r-cta&sso=true

CLINICAL PERSPECTIVES: Rare Disease Focus: Oncology / Rare Cancers +++++ +++++ +++++ ++

CLINICAL PERSPECTIVES MajesTEC-9 Clinical Trial of Teclistamab in Patients With Multiple Myeloma https://checkrare.com/majestec-9-clinical-trial-of-teclistamab-in-patients-with-multiple-myeloma/ Roberto Mina, MD, Associate Professor at Winship Cancer Institute of Emory University, discusses the Majestec-9 clinical trial of Tecvayli (teclistamab) in patients with multiple myeloma (MM). Using Artificial Intelligence to Analyze Castleman Disease Histopathology https://checkrare.com/using-artificial-intelligence-to-analyze-castleman-disease-histopathology/ Robert S. Ohgami, MD, PhD, Professor of Pathology, University of Utah, and Founding Vice President and Chief Medical Director, ARUP Institute for Research and Innovation, discusses the utilization of artificial intelligence (AI) to analyze Castleman disease (CD) histopathology. Elritercept’s Effect on Transfusion Independence in Patients With Myelodysplastic Syndromes https://checkrare.com/elritercepts-effect-on-transfusion-independence-in-patients-with-myelodysplastic-syndromes/ Lynette Chee, PhD, Hematologist at The Royal Melbourne Hospital/ Peter MacCallum Cancer Centre, discusses elritercept’s effect on transfusion independence (TI) in patients with myelodysplastic syndromes (MDS). 52-Week Results From the VERIFY Clinical Trial of Rusfertide in Patients With Polycythemia Vera https://checkrare.com/52-week-results-from-the-verify-clinical-trial-of-rusfertide-in-patients-with-polycythemia-vera/ Andrew T. Kuykendall, MD, VERIFY Lead Investigator and Associate Member in the Department of Hematology at Moffitt Cancer Center, discusses 52-week results from the VERIFY clinical trial testing rusfertide in patients with polycythemia vera (PV). Bleximenib Combination Therapy for Patients With Acute Myeloid Leukemia https://checkrare.com/bleximenib-combination-therapy-for-patients-with-acute-myeloid-leukemia/ Hartmut Döhner, MD, Professor of Medicine and Medical Director of the Department of Hematology and Oncology, Ulm University, Germany, discusses bleximenib combination therapy for treatment of patients with acute myeloid leukemia (AML). Rare Diseases in Ireland – New Efforts to Improve Access to Care https://checkrare.com/rare-diseases-in-ireland-new-efforts-to-improve-access-to-care/ We recently visited Ireland and learned more about the country’s rare disease efforts, which included plans to implement a new national strategy ensuring that people who have rare diseases can quickly gain access to the best possible health care. A Family’s Experience With Nasopharyngeal Carcinoma https://checkrare.com/a-familys-experience-with-nasopharyngeal-carcinoma/ Floyd Stewart, patient with stage 4 nasopharyngeal carcinoma, and Monique Stewart, advocate and Floyd’s wife, discuss their family’s experience with the disease and their advocacy work. Current Trends in the Healthcare Job Market https://checkrare.com/current-trends-in-the-healthcare-job-market/ Vicki Salemi, Career Expert, discusses current trends in the healthcare job market and expectations for 2026. Treatment With Elritercept for Patients With Myelofibrosis https://checkrare.com/treatment-with-elritercept-for-patients-with-myelofibrosis/ Ciro Rinaldi, MD, Consultant Hematologist and Professor of Hematology at United Lincolnshire Hospital, discusses treatment with elritercept for patients with myelofibrosis (MF). Updated Phase 2 Results of Telquetamab + Teclistamab in Multiple Myeloma https://checkrare.com/updated-phase-2-results-of-telquetamab-teclistamab-in-multiple-myeloma/ Saad Usmani, MD, Myeloma Specialist and Cellular Therapist at Memorial Sloan Kettering Cancer Center, discusses updated results from the phase 2 RedirecTT-1 study of telquetamab + teclistamab in patients with multiple myeloma (MM). Results from the CARTITUDE-4 Clinical Trial in Multiple Myeloma https://checkrare.com/results-from-the-cartitude-4-clinical-trial-in-multiple-myeloma/ Binod Dhakal, MD, Associate Professor of Medicine at Medical College of Wisconsin, discusses results from the CARTITUDE-4 clinical trial in patients with multiple myeloma (MM). Results of Part 1a of the OLYMPIA-3 Study of Odronextamab+Chemotherapy in Diffuse Large B Cell Lymphoma https://checkrare.com/results-of-part-1a-of-the-olympia-3-study-of-odronextamabchemotherapy-in-diffuse-large-b-cell-lymphoma/ Jean-Marie Michot, MD, Institut Gustave Roussy, France, discusses results from Part 1A (dose escalation) of the OLYMPIA-3 study of odronextamab plus chemotherapy in patients with diffuse large B-cell lymphoma (DLBCL). Ibr+Ven Combination Therapy Versus Clb+Obi Combination Therapy in Chronic Lymphocytic Leukemia https://checkrare.com/ibrven-combination-therapy-versus-clbobi-combination-therapy-in-chronic-lymphocytic-leukemia/ Paolo Ghia, MD, PhD, Professor of Medical Oncology at the Università Vita-Salute San Raffaele in Milan, Italy, discusses data comparing ibrutinib plus venetoclax combination therapy with chlorambucil + obinutuzumab combination therapy in patients with chronic lymphocytic leukemia (CLL). Results from the LINKER-MM4 Clinical Trial in Multiple Myeloma https://checkrare.com/results-from-the-linker-mm4-clinical-trial-in-multiple-myeloma/ Robert Orlowski, MD, PhD, Professor of Medicine at the University of Texas MD Anderson Cancer Center, discusses results from the LINKER-MM4 clinical trial testing Lynozyfic (linvoseltamab) to treat patients with newly diagnosed multiple myeloma (MM). The cAMeLot-2 Trial Testing Bleximenib Combination Therapy for Acute Myeloid Leukemia https://checkrare.com/the-camelot-2-trial-testing-bleximenib-combination-therapy-for-acute-myeloid-leukemia/ Elias Jabbour, MD, MD Anderson Cancer Center at the University of Texas, discusses the cAMeLot-2 study design of bleximenib combination therapy for patients with acute myeloid leukemia (AML). Ongoing Phase 3 Study of Paltusotine in Carcinoid Syndrome Due to Neuroendocrine Tumors https://checkrare.com/ongoing-phase-3-study-of-paltusotine-in-carcinoid-syndrome-due-to-neuroendocrine-tumors/ Aman Chauhan, MD, Oncologist at the University of Miami, discusses details of a phase 3 study testing paltusotine in patients with carcinoid syndrome due to neuroendocrine tumors (NETs). Results From the DeFi Clinical Trial of Nirogacestat in Patients With Desmoid Tumors https://checkrare.com/results-from-the-defi-clinical-trial-of-nirogacestat-in-patients-with-desmoid-tumors/ Bernd Kasper, MD, PhD, University of Heidelberg Cancer Center, discusses results from the DeFi clinical trial of nirogacestat in patients with desmoid tumors.