New Targeted Gene Therapy for Treatment of Duchenne Muscular Dystrophy


Invention Summary:

Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy. It is a genetic disorder and patients suffering from DMD experience gradual muscle weakness in early childhood and are non-ambulant by 12 years of age. The progressive nature of this disease leads to restrictive pulmonary function, diaphragm dysfunction and cardiomyopathy. At present there is no cure for DMD. Patients can only rely on therapies that can ease symptoms. There is a constant need to identify new therapeutic targets based on disease mechanism to complement the existing strategies and enhance the effectiveness of treatment for this lethal disease.

Accumulating evidence suggests that abnormal intracellular Ca2+ (Ca2+i) overload is an important, early pathogenic event that initiates and perpetuates disease progression in DMD. Among the several mechanisms that causes Ca2+i overload, decreased sarco/endoplasmic reticulum (SR) Ca2+ ATPase (SERCA) activity is likely to play an important role in disease pathogenesis. Inventors have found sarcolipin (SLN), an inhibitor of SERCA pump, is abnormally high in skeletal, diaphragm and cardiac muscles of animal models of DMD and in the cardiac and skeletal muscle biopsies obtained from DMD patients. The SLN upregulation is found to be one of the main causes of SERCA dysfunction and subsequently contributes to the muscle pathogenesis in DMD.

Rutgers scientists have developed a recombinant AAV mediated gene silencing technique to reduce SLN expression. The recombinant AAV expressing short hairpin RNA specific for mouse SLN (shSLN) effectively reduced SLN expression in dystrophic muscles and mitigated DMD and associated cardiomyopathy in mouse models of DMD. Inventors have also developed a construct expressing short hairpin RNA specific for human SLN (hsh.SLN) and have shown to effectively reduce human SLN expression in cell culture systems.

Market Applications:

  • Gene therapy for Duchenne muscular dystrophy


  • Easy packaging into AAV vector
  • Site-specific, targeted therapy
  • Efficient expression
  • Can be combined with existing therapy

Intellectual Property & Development Status:

  • Patent pending. Available for licensing and/or research collaboration.
Patent Information:
Shemaila Sultana
Assistant Director
Rutgers, The State University of New Jersey
Neurological disorder & neuropathic pain