Self-Assessment: Add-on Therapy for SMA | Navigating Through the Available Therapies for Duchenne: How Do You Choose?-Navigating Through the Available Therapies for Duchenne: How Do You Choose?: Dr. Kuntz Presentation

Navigating Through the Available Therapies for Duchenne: How Do You Choose?: Dr. Kuntz Presentation

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Dr. Nancy L. Kuntz's presentation discusses navigating the complex landscape of therapies available for Duchenne Muscular Dystrophy (DMD). She explains the nature of the DMD gene, which is one of the largest human genes and is linked to a crucial protein, dystrophin, impacting multiple muscle types and the brain.<br /><br />The presentation outlines the history and impact of DMD, touching on corticosteroids' role in delaying the progression of symptoms such as ambulation loss. Different classes of disease progression in DMD are highlighted, emphasizing the importance of specific genetic factors and their influence on therapy effectiveness.<br /><br />Dr. Kuntz reviews various therapeutic options, including exon skipping-based therapies and gene replacement techniques. The strategies for gene therapy, such as packaging functional dystrophin versions into adeno-associated virus (AAV) vectors, are discussed to address the delivery challenges of gene therapy. She also mentions the risks, including immune responses and side effects associated with gene therapy.<br /><br />Other aspects covered include emerging therapies like CAP-1002 cell therapy, designed to stimulate muscle growth and function, and pharmacological treatments like HDAC inhibitors in trials.<br /><br />Dr. Kuntz stresses that choosing therapies should be based on the specific dystrophin mutation present, and therapies should start before irreversible tissue damage occurs for better outcomes. She advocates combining standard care—such as corticosteroids and cardiopulmonary management—with mutation-targeted therapies for optimal results.<br /><br />In summary, while there is promise in various emerging treatments for DMD, many questions remain regarding the optimal integration of new therapies with existing standards of care. The presentation underscores the need for continued research and adaptation based on individual genetic profiles and therapeutic responses.

Keywords

Duchenne Muscular Dystrophy

DMD gene

dystrophin

corticosteroids

exon skipping

gene therapy

AAV vectors

CAP-1002

HDAC inhibitors

mutation-targeted therapies