Update on Gene Replacement/Repair Strategies for Duchenne Muscular Dystrophy

There has been a flurry of press recently on gene therapy in Duchenne muscular dystrophy and CRISPR technology. With this barrage of information, PPMD wanted to take a deeper dive into gene therapy as a potential treatment for Duchenne.


An Expert Opinion

On March 23, an interview PPMD conducted with Dr. Dongsheng Duan of the University of Missouri was published in Human Gene Therapy Clinical Development, Volume 27 Number 1 (click here to access the article). Dr. Duan recently participated as a panelist at our PPMD’s Gene Therapy Policy Forum in Washington, D.C. The interview gives some of the history that is shaping gene replacement development today and reviews progress. Dr. Duan explores CRISPR/Cas9 in the article, as well as a new gene repair strategy that uses some of the same techniques as gene replacement (e.g., they both will be delivered via AAV and thus some of the same challenges are faced by both techniques).  


In the past, the National Academy of Sciences and the National Academy of Medicines have taken a role in providing recommendations for controversial new areas of genetic research. Some examples are: recombinant DNA technology, human embryonic stem cell research, and human cloning. Recently, they launched a committee charged with gathering input to inform decision making on human gene editing research. View more information about the initiative. 


Another Take on CRISPR Technology

On Feb. 11, the NAS/NAM Human Gene Editing consensus committee heard input from select stakeholder groups, including public engagement experts, affected communities, industry, regulatory bodies, and members of the public who came to share their perspectives. Presentation slides and recorded videos of the talks and discussions are now available online. PPMD was asked to participate as a stakeholder and I was honored to represent the whole Duchenne community on this panel. What struck me most was listening to the words of Trevor Thompson, an advocate for the sickle cell community and affected himself. I came into the panel thinking that all affected communities would, of course, want CRISPR research to move ahead as fast as possible, as what risk could be greater than the known risk of a disease? Yet he presented a different view, one based in his values and preferences, and caused me to stop and think more carefully about the implications of CRISPR in a broader societal sense. 


A recent article in Nature, “Should you edit your children” (download) portrays some of the other points of view regarding CRISPR and its ability to change the human race through germ line editing. It made me ponder questions such as where does diversity end and disease begin? Is that a societal question or and individual one?

For Duchenne, I still believe the potential benefits of CRISPR/Cas9 are well worth the risks and we must continue to support CRSIPR research and understand the unique challenges it poses. But I do appreciate the need to carefully and thoughtfully understand the broader implications of CRISPR.


CRISPR & Duchenne

Dr. Guenter Scheuerbrandt, who in the past has provided our community with explanations and background information on many Duchenne therapies, recently sent us an update on exon skipping and how CRISPR is a promising technology that could help Duchenne. Click here to download & read his report.


It is a promising time in Duchenne, but there is so much still to do and the clock never stops ticking. As always, PPMD is evaluating potential paths forward, especially in gene therapy and gene repair. We are planning on having an educational session at PPMD's 2016 Connect Conference with leading researchers and clinicians in this field to discuss the similarities, differences, and potential implications for families of whole gene replacement and gene repair strategies. We are looking forward to a robust and informative discussion and hope you will be in Orlando with us to attend. 

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