Gene Therapy for 12 Rare Diseases will be Investigated Thanks to this Industry-Academia Partnership

Extended Collaboration 

Amicus Therapeutics has just announced that they are expanding their collaboration with the University of Pennsylvania’s Perelman School of Medicine for the next five years. This collaboration is focused on Penn’s Gene Therapy Program (GTP). Amicus will invest 10 million dollars each year in Penn in return for disease specific access to the GTP, with hope that it will allow them to develop new therapies and technologies. The funding allows Penn to advance their research and to license technologies which develop as a result of the collaboration.

This collaboration combines Penn’s expertise in gene transfer technologies with Amicus’ glycobiology and protein engineering specialty.

The extended alliance is a “Research, Collaboration and License Agreement.”

The Focus

The extended deal has allowed Amicus and Penn to expand their work from 3 to 6 programs focused on rare genetic diseases and add 12 more rare diseases to their profile.

At first, their agreement included work with Fabry disease, CDKL5 deficiency disorder, Pompe disease, and a metabolic disorder which was not disclosed. This extended collaboration has allowed them to add Sanfilippo syndrome (MPS IIIA and MPS IIIB), and Niemann-Pick Type C. In addition, they will collaborate on research examining gene therapies for most lysosomal disorders (LDs).

Besides these conditions, Amicus also has rights to investigate therapies for Angelman syndrome, Rett syndrome, and Myotonic dystrophy

Progress in Pompe 

In April, thanks to previous collaboration with Penn, Amicus announced extremely promising preclinical data from a gene therapy program utilizing AAV for Pompe disease. Pompe disease is a type of lysosomal storage disorder. It is caused by a GAA deficiency which leads glycogen to accumulate in the cells. The preclinical gene therapy data showed glycogen reduction in every key tissue and a more uniform cellular uptake as well more uniform lysosomal targeting. It exceeded every expectation of the researchers.

This investigation took place at the American Society of Gene and Cell Therapy located in Washington, DC.

This preclinical investigation in mice was possible due to the initial collaboration of the two organizations, and they are excited to see what other innovative findings may come from this extended collaboration.

Since these preclinical results for Pompe disease were so positive, the companies are ahead of schedule for their Pompe program. They now believe they will be able to choose their clinical candidate this year. This means they will be able to enter IND-enabling studies in 2019.

What it Could Mean 

This extended, 5 year collaboration ultimately allows for the knowledge and expertise of these two organizations to be expanded to more diseases. They are able to apply the knowledge they already have to other rare conditions which could benefit. This could lead to novel gene therapy candidates for conditions which currently have extremely limited treatment options.

Hopefully, other researchers will take inspiration from the collaboration of these organizations as to what can come from an industry-academia partnership. As showcased by the extremely positive preclinical investigation for Pompe disease, amazing things can happen when expert minds come together.

The hope is that this collaboration will lead to effective therapies or even cures for rare disease patients, and improve the quality of life of those suffering with debilitating conditions around the world.

You can read more about this extended collaboration here.

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