Based at the Center for Gene Therapy in The Research Institute at Nationwide Children's Hospital, the Center of Research Translation (CORT) in Muscular Dystrophy Therapeutic Development makes use of the experience of institutional investigators in bringing AAV-based and other genetic therapies through preclinical development to investigator-sponsored and industry-partnered clinical trials, concentrating on novel approaches to Duchenne, limb-girdle, congenital, and facioscapulohumeral muscular dystrophies.
The overall objective of the CORT is to enhance the rapid translation of new basic science discoveries into gene therapies for muscular dystrophies. The CORT is consistent with the mission of the National Institutes of Health's National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), which has the goal of finding effective treatments for and improving the quality of life of patients with debilitating forms of muscle disease.
The Center for Gene Therapy has a dedicated translational program that targets muscular dystrophies, with a particular longstanding interest in developing meaningful therapies for the most common forms, including Duchenne muscular dystrophy (DMD) and facioscapulohumeral muscular dystrophy (FSHD).
Our Center of Research Translation's goals include unraveling disease pathogenesis and developing new treatment paradigms that can be translated from the bench to the bedside. All three projects below make use of two critical research cores: the Therapeutic Viral Vector Design and Development Research Core (Director: Louise Rodino-Klapac, PhD; Co-director: Scott Loiler, PhD) and the Muscular Dystrophy Cell and Serum Banking Core (Director: Kim McBride, MD; Co-director: Nicolas Wein, PhD).
The individual projects are as follows:
- Project 1: Preclinical development of surrogate gene therapy using GALGT2 (Principal Investigator, Paul T. Martin, PhD)
- Project 2: DUX4 inhibition with non-coding RNAs as a therapeutic strategy for FSHD (Principal Investigator, Scott Q. Harper, PhD)
- Project 3: Use of an IRES-driven N-truncated dystrophin isoform as a clinical therapy for 5’ mutations in the dystrophinopathies (Principal Investigator, Kevin M. Flanigan, MD)
Through its two Cores, the NCH Center of Research Translation in Muscular Dystrophy is designed to support all of the Center for Gene Therapy Faculty.