The California Institute for Regenerative Medicine (CIRM) announced in January $100 million in funding for a broad range of projects, including four to support clinical programs. 

One of these was a $2.8 million award to Patricio Sepulveda, PhD, MBA, CEO of Amplo Biotechnology, Inc. That grant will support the development of a gene therapy approach for treating a neuromuscular disease caused by mutations in the DOK7 gene.

The disease, called DOK7 Congenital Myasthenic Syndrome (CMS), is one of a group of rare genetic neuromuscular disorders that cause debilitating muscle weakness. People with DOK7 CMS face life-long challenges, including extreme muscular weakness, breathing difficulties with lung infections, profound lethargy, and reliance on devices such as breathing aids, feeding tubes, and wheelchairs. 

Although there are some treatments to improve symptoms there is no cure for DOK7 CMS and people with the disease generally have progressively worsening symptoms through adulthood. 

The proposed gene therapy would deliver a functional copy of the DOK7 gene to patients, correcting the underlying genetic defect. This approach could significantly improve patient outcomes and transform the life for those living with this life-limiting disorder. 

The grant will support Amplo Biotechnology in its preclinical testing of the gene therapy and help move it toward clinical trials in patients.  

“It is with great pride, and an increased sense of responsibility towards the patients we wish to serve that we receive the support from CIRM. We are grateful of this opportunity and confident in our ability to transform the lives of CMS patients,” said Dr. Sepulveda.

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Written by guest contributor Amy Adams