Amicus and Penn Broaden Gene Therapy Collaboration to Include 12 More Rare Diseases


Amicus Therapeutics, based in Cranbury, NJ, and the Perelman School of Medicine at the University of Pennsylvania (Penn), are expanding their gene therapy collaboration. The deal broadens their work together from three to six programs for rare genetic diseases, as well as rights to collaborative R&D of novel gene therapies for lysosomal disorders (LDs) and 12 additional rare diseases.

The collaborations rare genetic diseases now include Pompe disease, Fabry disease, CDKL5 deficiency disorder (CDD), Niemann-Pick Type C (NPC), Mycopolysaccharidosis Type IIIB (MPS IIIB), in addition to a next-generation program in Mycopolysaccharidosis Type IIIA (MPS IIIA), both known as part of Sanfillipo Syndrome.

Also, the deal gives Amicus exclusive disease-specific access to collaborate with Penn’s Gene Therapy Program (GTP) to develop new gene therapy platform technologies for most lysosomal disorders and 12 more rare diseases.

The ongoing Amicus-Penn collaboration has led to preclinical proof-of-concept in Pompe disease. The expansion combines Amicus’ protein engineering and glycobiology expertise with Penn’s gene transfer technologies.

“This agreement is a significant step forward in creating a world-class industry-academia gene therapy partnership in rare diseases,” stated James M. Wilson, Professor of Medicine and Pediatrics at Perelman. “We have already seen highly encouraging preclinical results and proof-of-concept in Pompe disease through our existing collaboration and are excited by what we can further achieve together.”

The deal is a Research, Collaboration and License Agreement. Amicus provides funding to Penn to advance the preclinical research programs in the Wilson Lab and to license specific technologies invented under the funded Research Collaboration. The initial collaboration focused on Pompe disease, Fabry disease, CDD and an undisclosed rare metabolic disorder. The new expansion adds NPC and MPS IIB in addition to a next-generation program for MPS IIA.

The expanded deal is for five years. Amicus is investing $10 million per year for each of the five years. In return, Amicus will receive exclusive disease-specific rights to collaborate with GTP to research and develop therapies for lysosomal disorders.

The Amicus rights also include additional rare diseases, such as Rett Syndrome, Angelman Syndrome, Myotonic Dystrophy and other muscular dystrophies.

“The extension of our collaboration with Penn is a bold step forward in our commitment to create a potential cure that may alleviate an enormous amount of suffering for countless numbers of people in the world living with rare diseases, many of them children,” stated John F. Crowley, chairman and chief executive officer of Amicus. “Together with Penn we are now able to focus on additional lysosomal disorders, as well as several more prevalent rare diseases for which we can apply our understanding of underlying disease biology in rare metabolic disease, Amicus’ protein-engineering and development expertise and the world-renowned capabilities of Dr. Jim Wilson’s laboratory to develop novel gene therapy candidates.”

On April 30, Amicus presented initial preclinical data from its adeno-associated viral (AAV) gene therapy program for Pompe disease in mice at the American Society of Gene & Cell Therapy in Washington, DC. Pompe disease is an inherited lysosomal storage disorder caused by deficiency of the enzyme acid alpha-glucosidase (GAA). Decreased or nonexistent levels of GAA cause accumulation of glycogen in cells, which results in Pompe disease symptoms.

The preclinical data presented showed that the therapy resulted in more uniform cellular uptake and lysosomal targeting compared to natural hGAA AAV gene therapy, and showed robust glycogen reduction in all key tissues.

At the time, Crowley stated, “As these data exceed our expectations, our preclinical studies are progressing well ahead of schedule and we now expect to select a clinical candidate in 2019 to move forward into IND-enabling studies.”



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