Nationwide Researchers Announce Restoration of Full-Length Dystrophin in Humans

We’re thrilled to announce that researchers at Nationwide Children’s Hospital have documented the first-ever creation of full-length dystrophin in a human as a response to gene therapy.

CureDuchenne has contributed more than $1 million over the last decade to establish clinical proof of concept in patients for this innovative research. Thanks to the generosity of our supporters, CureDuchenne funded Dr. Flanigan’s very early work in 2010, first funding the creation of a mouse model with an exon 2 duplication and continuing funding through the pre-clinical phase of development.

 In 2020, Nationwide Children’s Hospital began its first-in-human clinical study for Duchenne using a novel gene therapy approach. Today, Nationwide Children’s Hospital announced that their AAV-delivered exon 2 skipping therapy produced full-length dystrophin in three individuals with Duchenne, including one dosed at a very young age who showed dystrophin levels restored to 70% of normal.  This is the first time a full-length dystrophin protein has been induced by therapeutic intervention.

Exonic duplications account for 10%–15% of all mutations in Duchenne muscular dystrophy, and until recently have been generally neglected by therapeutic approaches. Exon 2 duplication represents the most frequent disease-causing duplication and we are always pleased when our early funding attracts the attention of subsequent funders. This project is validation of our model to create meaningful treatments for everyone affected by Duchenne.

 Read the full release from Nationwide Children’s Hospital below.