Rare Disease Discussions

Peter Ciszewski, CheckRare
  • 5.0 (3)
  • MEDICINE
  • UPDATED DAILY

News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.

  1. Current Issues in Gene Therapies for Lysosomal Disorders

    5D AGO

    Current Issues in Gene Therapies for Lysosomal Disorders

    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 Objectives Describe current and emerging gene therapy data in lysosomal disorders and its clinical relevanceDescribe role of patients in gene therapy development Faculty Shunji Tomatsu, MD, PhD, Professor and Head, Nemours Children’s Health Alessandra d’Azzo, PhD, Emerita Faculty, Genetics, St. Jude Children’s Research Hospital Merve Emecen Sanli, MD, Associate Professor, Department of Pediatrics, University of Texas Southwestern Medical Center Ryan Colburn. Odimm, Inc. Disclosures AffinityCE 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, PhD Dr. D’Azzo has no relevant financial relationships to disclose. Merve Emecen Sanli, MD Dr. Sanli has no relevant financial relationships to disclose. Ryan Colburn Mr. 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 Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 47m
  2. Theranostics and Lysosomal Disorders

    5D AGO

    Theranostics and Lysosomal Disorders

    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 Objectives Describe 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. Faculty Duarte 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 Medicine Betul Celik, PhD, Postdoctoral Fellow, Nemours Children’s Health Gregory Newby, PhD, Assistant Professor, Department of Genetic Medicine, Johns Hopkins School of Medicine Disclosures AffinityCE 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, PhD Dr. Raimundo has no relevant financial relationships to disclose. Betul Celik, PhD Dr. Celik has no relevant financial relationships to disclose. Gregory Newby, PhD Dr. Newby has no relevant financial relationships to disclose. Mitigation of Relevant Financial Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 46m
  3. Expanded Applications of AI in Lysosomal Disorders

    5D AGO

    Expanded Applications of AI in Lysosomal Disorders

    Oral Alpan, MD, Immunologist, Amerimmune, Virginia, USA; Svenja Keller, PhD student, University of Zurich, Switzerland; Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center, Jerusalem, Israel; Patrick Deegan, MD, Consultant Metabolic Physician, University of Cambridge, UK; and Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System, Virginia, USA, discuss the applications of AI in the diagnosis and treatment of 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, visit https://checkrare.com/learning/p-grids2025-session4-expanded-applications-of-ai-in-lysosomal-disorders/ Learning Objectives Describe how emerging AI and machine learning technologies are advancing disease modeling and biomarker development.Describe how emerging AI and machine learning technologies are advancing therapeutic target identification across lysosomal disorders. Faculty Oral Alpan, MD, Immunologist, Amerimmune Svenja Keller, PhD student, University of Zurich Shoshana Revel-Vilk, MD, PhD, Director, Gaucher Unit & Pediatric Hematology/Oncology Unit, Shaare Zedek Medical Center Patrick Deegan, MD, Consultant Metabolic Physician, University of Cambridge Ravi Kamath, MD, PhD, Head of Musculoskeletal Radiology, Inova Health System Disclosures AffinityCE 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. Oral Alpan, MD  Dr. Alpan has no relevant financial relationships to disclose. Svenja Keller Ms. Keller has no relevant financial relationships to disclose. Shoshana Revel-Vilk, MD, PhD Dr. Revel-Vilk receives grant/research support from Sanofi and Takeda. She is a member of the Speakers Bureau for Sanofi and Takeda, and a member of the Advisory Board for Takeda. Patrick Deegan, MD Dr. Deegan is a consultant and advisory board member with Sanofi, Takeda, and Amicus. He also receives research support from Sanofi and Amicus. Ravi Kamath, MD, PhD Dr. Kamath is on an advisory board for Intrinsic Therapeutics. He is also a consultant for Sanofi, Takeda, and Spur Therapeutics. Mitigation of Relevant Financial Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    2h 1m
  4. Organoids and Lab-Grown Models in Lysosomal Disorders

    5D AGO

    Organoids and Lab-Grown Models in Lysosomal Disorders

    Mia Horowitz, PhD, Tel Aviv University; Aitor Aguirre, PhD, Michigan State University, Michigan, USA; and Ying Sun, PhD, University of Cincinnati, discuss the use of organoid models in lysosomal disorder research and drug development. 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, visit https://checkrare.com/learning/p-grids2025-session3-organoids-and-lab-grown-models-in-lysosomal-disorders/ Learning Objectives Describe the use of heart organoid models to better understand the pathophysiology of lysosomal disorders and its clinical relevanceDescribe the use and application of brain organoid models in neuropathic Gaucher disease research and treatment Faculty Mia Horowitz, PhD, Shmunis School of Biomedicine and Cancer Research, George S. Wise Faculty of Life Sciences, Tel Aviv University. Aitor Aguirre, PhD, Associate Professor of Biomedical Engineering, Institute for Quantitative Health Science and Engineering, Chief, Division of Developmental and Stem Cell Biology (IQ), Director, MSU Stem Cell Core, Michigan State University. Ying Sun, PhD, Professor, Cincinnati Children’s Hospital Medical Center, University of Cincinnati. 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. Mia Horowitz, PhD Dr. Horowitz has no relevant financial relationships to disclose. Aitor Aguirre, PhD Dr. Aguirre has no relevant financial relationships to disclose. Ying Sun, PhD Dr. Sun receives research support from Enkefalos Biosciences and Yuhan Corporation. Mitigation of Relevant Financial Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    1h 36m
  5. Nanotechnology and Lysosomal Disorders

    5D AGO

    Nanotechnology and Lysosomal Disorders

    Stephan Stern, PhD, DABT, Director of Research and Development, Nanotechnology Characterization Lab (NCL), Frederick National Laboratory for Cancer Research, Maryland, USA; and Ruben Boado, PhD, Professor of Medicine, University of California at Los Angeles, California, USA, discuss the use of nanotechnology in the treatment of 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, visit https://checkrare.com/learning/p-grids2025-session2-nanotechnology-and-lysosomal-disorders/ Learning Objectives Describe recent advances in the use of nanotechnology to treat lysosomal disordersDescribe the role of nanotechnology in addressing unmet needs in lysosomal disorders Faculty Stephan Stern, PhD, DABT Director of Research and Development, Nanotechnology Characterization Lab (NCL), Frederick National Laboratory for Cancer Research Ruben Boado, PhD Professor of Medicine, University of California at Los Angeles Disclosures AffinityCE 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. Stephan Stern, PhD, DABT Dr. Stern has no relevant financial relationships to disclose.  Ruben Boado, PhD Dr. Boado has no relevant financial relationships to disclose. Mitigation of Relevant Financial Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    50 min
  6. AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics

    5D AGO

    AI in Medicine: Transforming the Landscape of Tissue-Based Diagnostics

    Behzad Najafian, MD, Professor, Department of Laboratory Medicine & Pathology, Department of Medicine at the University of Washington, Washington, USA discusses the use of artificial intelligence in identifying and managing 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, visit https://checkrare.com/learning/p-grids2025-session1-ai-in-medicine-transforming-the-landscape-of-tissue-based-diagnostics/ Learning Objectives Describe recent advances in the applications of AI in lysosomal disorder diagnosis and its clinical relevance Faculty Behzad Najafian, MD  Professor, Department of Laboratory Medicine & Pathology, Department of Medicine, University of Washington Disclosures AffinityCE 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. Behzad Najafian, MD Dr. Najafian is on the Advisory Board/Consultant for Sanofi, Amicus, Avrobio, 4DMT, Sangamo, Freeline, AceLink, Relay, CRISPR, ELOXX, SPARK, UNIQURE. He receives grants/research support from Amicus.  Mitigation of Relevant Financial Relationships AffinityCE 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 Designation Physicians This 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 Assistants AffinityCE 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. Nurses AffinityCE 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 Practitioners AffinityCE 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 Counselors AffinityCE 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 Professionals All 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 Costs There is no cost to participate in this activity. CME Inquiries For all CME policy-related inquiries, please contact us at ce@affinityced.com Send customer support requests to cds_support+ldrtc@affinityced.com

    52 min
  7. Chapter 8: Gene Therapy Discussion and Q&A

    12/22/2025

    Chapter 8: Gene Therapy Discussion and Q&A

    Alan Beggs, PhD Director of the Manton Center for Orphan Disease Research Sir Edwin and Lady Manton Professor of Pediatrics, Boston Children's Hospital Harvard Medical School, Boston, MA, USA   Julie A. Parsons, MD Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA The ASPIRO Clinical Trial is on clinical hold since September 2021. In this part, Doctors Beggs and Parsons will discuss key issues on gene therapy development. Question: Is there a standardized immunomodulation regimen being considered for gene therapy? Julie A. Parsons, MD As I mentioned, right now, I think there are a number of different concepts that are being utilized. We don't really have a recommended standard regimen at this point. There are a number of different trials that are ongoing looking at trying to answer this question. In some of the clinical trials, there is an immune modulating regimen that is being put in place but being looked at. There isn't anything that we have as a standard at this moment for all gene transfer therapies, but I'm hopeful that we will come up with something that really makes sense in each patient population as we go forward with specific gene transfer therapies. Question: What are the long-term implications, safety and efficacy of a one-time gene therapy in pediatric patients with neuromuscular diseases? Alan Beggs, PhD One question is the efficacy. For example, Donovan Decker's story, he had an experimental treatment of one muscle. It was a phase one safety trial, and he knew that nothing was going to come of it in terms of direct benefit to him. As a result, though, 25, 30 years later, he still has a tighter against AAV vectors. He's not a candidate for gene therapy under current protocols, although there's a lot of work going on to redosing. But for now, it's a one-time treatment. What you get is what you get, and there's not a chance to go back and do it again. The other question is durability. We really don't know about the long-term durability for these treatments. I should say that, for example, in the studies that we did, David Mack, who's here in the audience, managed a dog colony for a dog model of excellent tubular myopathy. Those animals lived 10 years in a... We never used the C-word, but they were cured. They were healthy, happy, normal dogs who would have had to be put down at 6 months of age otherwise. And then, as we heard, I'll let you talk about the concern for unanticipated SAEs as time goes on, but I think there's other aspects we need to think about. Julie A. Parsons, MD Yeah. I think that this is really the key question that all of us are going to need to help answer over the next several years. Efficacy, we're looking at outcomes, and outcomes come in a variety of flavors. I think we do a decent job with motor outcomes. We don't do a decent job with some other outcomes. I think we need to look more broadly in terms of what we mean in terms of beneficial outcomes and really take some of those cues from the patients themselves about if these are efficacious treatments, because, again, the risk is high as we deliver these agents, and we need to know that it's worth it to the patients and families. In terms of safety, we're working on it. There are all sorts of things that are coming forward as issues with these patients. I think that collectively as a community, that our responsibility is to follow patients for the long term. There are lots of registries and outcome studies. We're not very good as a community about reporting adverse events to central groups. We're not great about broadcasting that to each other in real-time. I think those are things that we really need to work on as a community in terms of helping with the safety issues so that we all have a communal better understanding of what some of those issues are.

    4 min
  8. Chapter 7: Changes in Gene Therapy Programs to Lessons Learned from Recent Trials

    12/22/2025

    Chapter 7: Changes in Gene Therapy Programs to Lessons Learned from Recent Trials

    Julie A. Parsons, MD  Haberfield Endowed Chair in Pediatric Neuromuscular Disorders Professor of Clinical Pediatrics and Neurology University of Colorado School of Medicine, Children's Hospital Colorado Aurora, CO, USA How have programs adapted to the experiences from clinical trials? I'm just looking at SMA because we've had SMA. We've had onasemnogene around for the longest period of time. We want to always confirm a diagnosis and know that the patient is right. We do antibody testing for these disorders prior to delivering the AAV therapies. We have to know that the product that is incredibly expensive is handled appropriately by the institution. Dealing with the pharmacy, making certain that you handle the agent properly, patients need to be pretreated at this point with prednisone, and that really has to happen so that you know that they're ready for treatment, that they don't have any infections prior to treatment. Then we need to monitor and provide medication and follow-up afterwards. As I said, I think this is really, really important to make sure that you're connected well with the patient. If you live in an area as we do, that has a huge catchment area with patients that come from hundreds of miles away, sometimes they need to stay with us for a period of time, so that we can ensure the safety and follow-up of these patients after we deliver gene therapies. Again, a recurring theme is the patients that you're treating who are not in a clinical trial are not the homogeneous, well-selected patients. It's really all actors. The population that you're treating commercially is very different. We're now moving into treating patients with larger body masses and older ages. We don't always know, because those patients haven't really been included in the clinical trials. We don't really know what some of the effects are going to be with that group of patients as well. I am a neurologist. I am not an immunologist. I have had to learn a lot of immunology at this point, but it's still not sufficient. I think that we also need to reach out to our subspecialist colleagues who really do have more experience than we do to try to help us with some of these issues, because as we look at these viral vector capsids and the transgenes, we have to say, is there something that we can do to mitigate the immune response that we're seeing when we're giving massive doses of these agents and really taxing the immune system in our patients? Looking at possibilities, we give steroids, and that's really what we've done. That was what was done in the early clinical trials with MENDEL. It's like, okay, prednisone, that's all we have to do is we give steroids and everybody will be fine. That really isn't maybe the answer. As we have more information, we know that we're going to start with steroids, but we're really going to look at, is there a way to block both the B-cell response, the T-cell response? Is there something that we can do so that we don't have to sit on the edge of our seats and not sleep for months after we treat these patients? At least in a trial, was done looking at patients who were treated just with corticosteroids. Those patients had rapid increases in IgM and IgG. There's complement activation. Both the adaptive and the acute immune responses are triggered. That's really what we're doing as standard practice right now, but in the trial looking at treating patients and pretreating patients with rituximab blocking B cells and sirolimus and corticosteroids, then no significant change in IgM, IgG. Is that something that we should be doing? I think that some of the clinical trials that are being set up are looking at instituting some of these immune-modulating features to see whether or not their outcomes are improved. Can we do anything proactively to prevent our patients from having some of these very severe events or fatalities? I think that's really what we need to be looking at now. I think we are looking at that as a community, and to me, is a story that is still unfolding in terms of how we keep our patients safe. In the next part, Doctors Beggs and Parsons will discuss key issues on gene therapy development.

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News and clinical perspective including CME programs focused on rare diseases. CheckRare focuses on rare and neglected diseases.

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  • Creator
    Peter Ciszewski, CheckRare
  • Years Active
    2020 - 2025
  • Episodes
    186
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    Explicit
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    © Copyright Peter Ciszewski, CheckRare
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