AMT Treats Duchenne Muscular Dystrophy

Armen Hareyan's picture

Amsterdam Molecular Therapeutics obtained a license from La Sapienza University in Rome, Italy, to their advanced small nuclear RNA(snRNA)-based exon-skipping technology for the treatment of Duchenne muscular dystrophy (DMD). The combination with AMT's proprietary adeno-associated virus (AAV) gene therapy platform potentially makes up a long-term treatment for this seriously debilitating disease with a single administration of the product.

Duchenne Muscular Dystrophy

Duchenne muscular dystrophy, caused by mutations in the dystrophin gene (essential for muscle function) is a severely debilitating neuromuscular disease. It affects young children, is progressive and leads to death in young adulthood. In the USA and Europe about 120,000 people suffer from it. Today, there is no treatment to prevent the fatal outcome.


The group of Prof. Irene Bozzoni at La Sapienza has done seminal work to develop a treatment for DMD. Using adeno-associated viral vectors, AMT's gene therapy platform of choice, and an exon-skipping snRNA program Bozzoni and co-workers demonstrated long term systemic and therapeutic effect in animals after a single administration[1]. One of the important advantages of the Bozzoni technology is that a single systemic delivery of the AAV vector containing the required antisense RNA-coding construct will result in long-term treatment of Duchenne muscular dystrophy.

Formalizing relationship with leading RNA research group of prof. Irene Bozzoni

Ronald Lorijn, CEO of AMT said: "We are very excited to have inlicenced an exciting therapeutic approach, which has shown to provide a life-long cure in rodents suffering from Duchenne's disease. In Duchenne's disease in particular the combined application of snRNA and AAV vectors has shown tremendous promise. Access to La Sapienza's RNA technology perfectly complements our gene and vector therapy platform. It adds a project to AMT's R&D pipeline that will start its pre-clinical phase this year."

Exon skipping in DMD

Exon skipping is a technology to neutralize genetic defects by preventing the faulty parts of the gene being used. At the cellular level, a molecule called messenger RNA (mRNA) reads off (transcribes) the protein instructions from the gene. It then transports these instructions to the ribosomes in the cell where the protein is assembled. Messenger RNA is not a transcript of the complete gene sequence, but only of the exons, which are the sections of the gene that code for a portion of the protein. If one of the exons contains an error, this process may be halted, and the production of the full-length dystrophin protein cannot take place. However, when the faulty exon is eliminated (i.e. skipped), protein synthesis does take place and leads to a functional, albeit shorter, dystrophin protein. By using the exon-skipping technique the mutated exons in the dystrophin mRNA that contain errors are "skipped" and as a result the muscle cells are able to produce functional dystrophin protein.

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