{"id":"CU26383","slug":"gene-therapy-for-x-linked--CU26383","source":{"id":"CU26383","dataset":"techtransfer","title":"Gene therapy for X-linked Emery-Dreifuss muscular dystrophy","description_":"<p>This technology is a gene therapy approach that restores expression of human emerin protein in cardiac and skeletal muscles.  </p>\r \r<h2>Unmet Need: Disease-modifying therapy for X-linked Emery-Dreifuss muscular dystrophy</h2>\r \r<p>Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscular disorder causing joint degradation, muscle wasting, and life-threatening heart disease. The most common subtype of EDMD is driven by mutations in the X-linked EMD gene, leading to loss of the protein emerin. Current treatment options are limited to supportive and symptomatic care, with no disease-modifying therapies available.  </p>\r \r<h2>The Technology: Non-toxic gene therapy for treating disorders caused by emerin deficiency</h2>\r \r<p>This technology uses Adeno-associated virus (AAV) to selectively deliver functional human emerin protein to striated muscles. By utilizing a promoter that drives expression specifically in muscle, this approach restores strong expression of emerin in heart and skeletal muscles without inducing significant toxicity to the liver or kidney.  </p>\r \r<p>This technology has been validated with mice lacking a functional copy of the EMD gene and a human iPSC-derived cardiomyocyte model of X-linked EDMD. </p>\r \r<h2>Applications:</h2>\r \r<ul>\r<li><p>Gene therapy for X-linked EDMD and related disorders caused by emerin deficiency </p></li>\r<li><p>Treatment of emerin-related cardiomyopathy </p></li>\r<li><p>Research tool for studying X-linked EDMD </p></li>\r<li><p>Platform for developing gene therapies for other striated muscle diseases </p></li>\r<li><p>Platform for developing non-AAV delivery platforms </p></li>\r</ul>\r \r<h2>Advantages:</h2>\r \r<ul>\r<li><p>Disease-modifying approach </p></li>\r<li><p>Restores robust and specific emerin expression  </p></li>\r<li><p>Restores proper localization of emerin protein </p></li>\r<li><p>Minimizes off-target and systemic toxicities </p></li>\r<li><p>Support long-term therapeutic efficacy and safety </p></li>\r</ul>\r \r<h2>Lead Inventor:</h2>\r \r<p><a href=\"https://www.pathology.columbia.edu/profile/howard-j-worman-md\">Howard J. Worman, M.D.</a> </p>\r \r<h2>Related Publications:</h2>\r \r<ul>\r<li><p><a href=\"https://pubmed.ncbi.nlm.nih.gov/26415001/\">Herrada I, Samson C, Velours C, Renault L, Ostlund C, Chervy P, Puchkov D, Worman HJ, Buendia B, Zinn-Justin S. “Muscular dystrophy mutations impair the nuclear envelope emerin self-assembly properties” ACS Chem Biol. 2015 Dec; 10(12): 171-176.</a> </p></li>\r<li><p><a href=\"https://pubmed.ncbi.nlm.nih.gov/11470279/\">Wolff N, Gilquin B, Courchay K, Callebaut I, Worman HJ, Zinn-Justin S. “Structural analysis of emerin, an inner nuclear membrane protein mutated in X-linked Emery-Dreifuss muscular dystrophy” FEBS Lett. 2001 Jul; 501(2-3): 171-176.</a> </p></li>\r<li><p><a href=\"https://pubmed.ncbi.nlm.nih.gov/10318763/\">Ostlund C, Ellenberg E, Hallberg E, Lippincott-Schwartz J, Worman HJ. “Intracellular trafficking of emerin, the Emery-Dreifuss muscular dystrophy protein” J Cell Sci. 1999 Jun; 112(11): 1709-1719.</a> </p></li>\r</ul>\r \r<h2>Tech Ventures Reference:</h2>\r \r<ul>\r<li><p>IR CU26383, CU26392 </p></li>\r<li><p>Licensing Contact: <a href=\"mailto:techtransfer@columbia.edu\">Jerry Kokoshka</a> </p></li>\r</ul>","tags":["Adeno-associated virus","Cardiac muscle","Cardiomyopathy","Gene therapy","Genetic disorder","Muscular dystrophy","Nuclear envelope","Protein","Self-assembly","Skeletal muscle","Structural analysis"],"file_number":"CU26383","collections":[],"meta_description":"AAV-based gene therapy restoring emerin in heart and skeletal muscle to modify X-linked EDMD progression.","apriori_judge_output":"{\"scores\":{\"novelty\":4.0,\"potential_impact\":4.0,\"readiness\":4.0,\"scalability\":4.0,\"timeliness\":4.0},\"weighted_score\":4.0,\"risks\":[\"Assay translatability to humans remains to be demonstrated beyond preclinical models\",\"AAV delivery poses potential long-term safety/toxicity concerns in non-target tissues\",\"Manufacturing scalability and regulatory pathway for a tissue-targeted, novel vector may be complex\"],\"one_sentence_take\":\"High novelty and solid preclinical readiness with strong potential impact, but translational, safety, and manufacturing hurdles could temper near-term scalability and timeliness.\"}","inventors":["Howard Worman","Ji-Yeon Shin"],"manager":"Jerry Kokoshka","depts":["Medicine"],"divs":["Columbia University Medical Center (CUMC)"],"date_released":"2026-09-22"},"highlight":{},"matched_queries":null,"score":0.0}