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Gene therapy for treatment of Duchenne Muscular Dystrophy (DMD)

Description:

Duchenne Muscular Dystrophy (DMD) therapy deletes let-7c miRNA binding sites using CRISPR-Cas9 based genome editing and AAV based delivery.

 

Inventor

Tejvir Khurana, MD, PhD

 

Problem

Duchenne Muscular Dystrophy (DMD) is a fatal disease characterized by progressive muscle degeneration and weakness that affects 1 in 3,500 live-born males worldwide, and which ultimately causes death in the twenties due to respiratory or cardiac failure. It is caused by mutations in the DMD gene leading to an absence or severe reduction of dystrophin, a protein that helps keep muscle cells intact. There is currently no cure for DMD and all dystrophin-based approaches are associated with immunoreactivity limiting their long-term efficacy. 

 

Solution

Dr. Khurana and colleagues at University of Pennsylvania developed a method to upregulate utrophin, a dystrophin homolog protein, using CRISPR-Cas9 based genome editing and AAV-based delivery. The inventors have previously demonstrated in a mouse model that inhibiting the interaction between the let-7c miRNA and utrophin gene, which normally acts to represses expression, is able to increase utrophin expression and functionally rescue dystrophic phenotype. This discovery led to the present method that genomically edits the microRNA binding sites in the utrophin gene to ultimately upregulate utrophin expression. Unlike dystrophin-targeting gene therapy, this method is particularly attractive for therapeutic strategies, as extremely high levels of utrophin are not associated with toxicity or immunoreactivity.

 

Gene editing method to delete interaction between miRNA and utrophin gene leading to increased expression of utrophin.

 

 

Applications

• Therapeutic for Duchenne Muscular Dystrophy

 

Advantages

• No immunoreactivity associated with high levels of utrophin in vivo

• Rescues dystrophic phenotype

 

Stage of Development

• In vitro data

• Animal studies planned

 

Intellectual Property

Provisional Filed

 

Reference Media

Mishra et al. PLoS One, 2017,12(10) 

 

Desired Partnerships

License

Co-development

 

Docket #: 18-8707


Patent Information:
For Information, Contact:
Neal Lemon
Associate Director, PSOM Licensing Group
University of Pennsylvania
nlemon@upenn.edu
Inventors:
Tejvir Khurana
Keywords: