Gene Therapy Research and Projects

Areas of Focus

  • The muscular dystrophies, including:
    • Duchenne and Becker muscular dystrophy (including gene replacement, surrogate gene transfer, and exon skipping therapies)
    • Limb-girdle muscular dystrophies
    • Facioscapulohumeral muscular dystrophy
    • Myotonic dystrophy
    • Congenital muscular dystrophies
  • Spinal muscular atrophy
  • Amyotrophic lateral sclerosis (Lou Gehrig’s disease)
    • Peripheral neuropathies (including Charcot-Marie-Tooth disease)
    • Lysosomal storage disorders (including Sanfilippo syndrome and other mucopolysaccharidoses)
    • AAV gene transfer vector development
    • Muscle and nervous system stem cells

Featured Research and Projects

  • The Center for Gene Therapy hosts one of only 11 Centers of Research Translation (CORTs) funded by the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), the P50-funded Center for Research Translation in Muscular Dystrophy Therapeutic Development.
  • Nationwide Children’s Hospital and The Ohio State University Wexner Medical Center are part of a select group of 25 national clinical sites that make up the Network of Excellence in Neuroscience Clinical Trials (NeuroNEXT) program.
  • Phase I clinical trials of recombinant adeno-associated virus (rAAV) based gene transfer in Duchenne muscular dystrophy (DMD).  Ongoing projects include studies of microdystrophin gene replacement and surrogate gene therapy with GALGT2.
  • Phase I clinical trials of recombinant adeno-associated virus (rAAV) based gene transfer in neurodegenerative diseases, including studies of Sanfilippo syndrome (mucopolysacchardosis types IIIA and IIIB) and of Batten’s disease. 
  • Clinical trials of antisense oligomer-induced exon skipping and nonsense mutation readthrough for DMD, and rAAV gene therapy for spinal muscular atrophy (SMA).
  • Outcomes research to establish the appropriate endpoints for future clinical trials, and to establish the natural history of diseases.
  • Translational research of novel treatment strategies for muscular dystrophies, including exon-skip inducing virally-delivered RNAs for DMD, and RNAi approaches to FSHD.
  • Clinical and pre-clinical development of novel, neurotrophic-based treatment strategies for amyotrophic lateral sclerosis (ALS), using viral vector-mediated gene transfer to provide factors for neuronal growth and protection of affected motor neurons.
  • Research into second-generation gene transfer rAAV vectors targeting multiple organs, for improved therapeutic gene delivery.

All of the investigators at the Center for Gene Therapy work closely with the NCH cGMP Viral Vector Clinical Manufacturing Facility, which supports production of vector to the high FDA-required standards necessary for Phase I and Phase II clinical trials.