Rare Disease Discussions Podcast Por Peter Ciszewski CheckRare arte de portada

Rare Disease Discussions

Rare Disease Discussions

De: Peter Ciszewski CheckRare
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News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.Copyright Peter Ciszewski, CheckRare Enfermedades Físicas Higiene y Vida Saludable
Episodios
  • Submission of New Drug Application: Rusfertide for Polycythemia Vera

    Submission of New Drug Application: Rusfertide for Polycythemia Vera
    Feb 17 2026
    Dinesh Patel, PhD, CEO of Protagonist Therapeutics, discusses the New Drug Application (NDA) submission to the US Food and Drug Administration (FDA) for rusfertide to treat adults with polycythemia vera (PV).

    PV is characterized by excess red blood cells in the bloodstream, increasing the risk for blood clots. Most cases of PV are acquired and occur more frequently in men than in women. The condition has been associated with genetic changes in the JAK2 and TET2 genes. Rusfertide is an investigational first-in-class subcutaneously administered hepcidin mimetic peptide designed to regulate iron homeostasis and red blood cell production to control hematocrit levels in patients with PV.

    The NDA submission is based on positive 32-week primary analysis and 52-week results from the phase 3, global, randomized, placebo-controlled VERIFY clinical trial (NCT05210790). In this study, patients receiving rusfertide plus standard of care therapy demonstrated a substantially higher response rate compared to placebo plus standard of care, including durable hematocrit control, a reduction in phlebotomy requirements and improvement in pre-specified patient reported outcome endpoints.

    Rusfertide has received Breakthrough Therapy Designation, Orphan Drug Designation, and Fast Track Designation from the FDA.
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    19 m
  • Current Issues in Gene Therapies for Lysosomal Disorders

    Current Issues in Gene Therapies for Lysosomal Disorders
    Dec 31 2025
    Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health, Delaware, USA; Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital, Tennessee, USA; Merve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical Center, Texas, USA; and Ryan Colburn, patient with Pompe disease and president of Odimm Inc, discuss new and emerging gene therapies for lysosomal disorders.This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.To obtain CME/CE credit, please visit https://checkrare.com/learning/p-grids2025-session6-current-issues-in-gene-therapies-for-lysosomal-disorders/ Learning ObjectivesDescribe current and emerging gene therapy data in lysosomal disorders and its clinical relevanceDescribe role of patients in gene therapy developmentFacultyShunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s HealthAlessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research HospitalMerve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical CenterRyan Colburn. Odimm, Inc.DisclosuresAffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.Shunji Tomatsu, MD, PhD Dr. Tomatsu has received the following grants: Morquio Foundations and families: Scarlett Grifith, Bennett, A Cure for Roberts, and Morquio Conference; MPS Societies: Japanese, National, and Austrian; NIH grants: 1-R01-HD102545, NIH, NICHD, Tomatsu (PI), 1R01HD104814-01A1, NIH, NICHD, Langan, T.J. (PI), Role: Site-PI, R43HD114328-01, NIH, ACOSTA, WALTER (PI), Role: site PI, 1R43AR084638-01, NIH, MOUNZIH, KHALID (PI); Foundation of NIH: FNIH RFP NUMBER: 2022-BGTC-005 Tomatsu (PI). Alessandra d’Azzo, PhDDr. D’Azzo has no relevant financial relationships to disclose.Merve Emecen Sanli, MDDr. Sanli has no relevant financial relationships to disclose.Ryan ColburnMr. Colburn has an advisory, consulting and/or project based relationship or stock holding with: Abeona Therapeutics, Amicus Therapeutics, Astellas Gene Therapies, Avidity Biosciences, Bayer, Catalyst Pharmaceuticals, Denali Therapeutics, M6P Therapeutics, Sangamo Therapeutics, Sanofi, Solid Biosciences.Mitigation of Relevant Financial RelationshipsAffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.Accreditation and Credit DesignationPhysiciansThis activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.Physician AssistantsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.NursesAffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit.Nurse PractitionersAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.Genetic CounselorsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity.Other ProfessionalsAll other health care professionals completing this continuing education ...
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    1 h y 47 m
  • Theranostics and Lysosomal Disorders

    Theranostics and Lysosomal Disorders
    Dec 31 2025
    Duarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Portugal; Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of Medicine, Pennsylvania, USA; Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health, Delaware, USA; and Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of Medicine, Maryland, USA,discuss the principles of theranostics and its application in lysosomal disorders.This continuing education activity is provided through collaboration between the Lysosomal and Rare Disorders Research and Treatment Center (LDRTC), CheckRare CE, and AffinityCE. This activity provides continuing education credit for physicians, physician assistants, nurses, nurse practitioners, and genetic counselors. A statement of participation is available to other attendees.To obtain CME/CE credit, please visit https://checkrare.com/learning/p-grids2025-session5-theranostics-and-lysosomal-disorders/ Learning ObjectivesDescribe lysosomal and inter-organelle mechanisms that contribute to pathology in lysosomal disorders, and how these pathways are being leveraged for diagnostic and therapeutic applications.Describe current and emerging theranostic strategies for lysosomal disorders.FacultyDuarte C. Barral, PhD, Associate Professor, NOVA Medical School, NOVA University of Lisbon, Nuno Raimundo, PhD, Associate Professor, Department of Cellular and Molecular Physiology; Penn State College of MedicineBetul Celik, PhD, Postdoctoral Fellow, Nemours Children’s HealthGregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of MedicineDisclosuresAffinityCE staff, LDRTC staff, planners, and reviewers, have no relevant financial relationships with ineligible companies to disclose. Faculty disclosures, listed below, will also be disclosed at the beginning of the Program.Duarte C. Barral, PhD Dr. Barral’s group receives grant support from Sea4Us.Nuno Raimundo, PhDDr. Raimundo has no relevant financial relationships to disclose.Betul Celik, PhDDr. Celik has no relevant financial relationships to disclose.Gregory Newby, PhDDr. Newby has no relevant financial relationships to disclose.Mitigation of Relevant Financial RelationshipsAffinityCE adheres to the ACCME’s Standards for Integrity and Independence in Accredited Continuing Education. Any individuals in a position to control the content of a CME activity, including faculty, planners, reviewers, or others, are required to disclose all relevant financial relationships with ineligible entities (commercial interests). All relevant conflicts of interest have been mitigated prior to the commencement of the activity. Conflicts of interest for presenting faculty with relevant financial interests were resolved through peer review of content by a non-conflicted reviewer.Accreditation and Credit DesignationPhysiciansThis activity has been planned and implemented in accordance with the accreditation requirements and policies of the Accreditation Council for Continuing Medical Education (ACCME) through the joint providership of AffinityCE and the LDRTC. AffinityCE is accredited by the ACCME to provide continuing medical education for physicians.AffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.Physician AssistantsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Physician Assistants should claim only the credit commensurate with the extent of their participation in the activity.NursesAffinityCE is accredited as a provider of nursing continuing professional development by the American Nurses Credentialing Center’s Commission on Accreditation (ANCC). This activity provides a maximum of 1 hours of continuing nursing education credit.Nurse PractitionersAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Nurse practitioners should claim only the credit commensurate with the extent of their participation in the activity.Genetic CounselorsAffinityCE designates this enduring activity for a maximum of 1 AMA PRA Category 1 Credits™. Genetic Counselors should claim only the credit commensurate with the extent of their participation in the activity.Other ProfessionalsAll other health care professionals completing this continuing education activity will be issued a statement of participation indicating the number of hours of continuing education credit. This may be used for professional education CE credit. Please consult your accrediting organization or licensing board for their acceptance of this CE activity. Participation CostsThere is no cost to participate in this activity.CME InquiriesFor all CME policy-related inquiries, please contact us at ce@affinityced.comSend ...
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    1 h y 46 m
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