Preclinical Programs | Amicus Therapeutics

Preclinical Programs

In addition to our clinical programs, we have the ability to leverage our biologics capabilities and platform technologies to further expand our pipeline.

 

 

CDKL5 Deficiency DIsorder (CDD)

We are currently researching a potential first-in-class protein replacement therapy approach for CDKL5 Deficiency Disorder (CDD) in preclinical studies. CDKL5 (cyclin-dependent kinase-like 5) is a gene on the X-chromosome encoding the CDKL5 protein that regulates the expression of several essential proteins for normal brain development. Genetic mutations in the CDKL5 gene result in CDKL5 protein deficiency and the disorder manifests clinically as persistent seizures starting in infancy, followed by severe impairment in neurological development. Most children affected by CDD cannot walk or care for themselves and may also suffer from scoliosis, visual impairment, sensory issues, and gastrointestinal complications.

Amicus announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for CDD. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.

Preclinical Gene Therapy Programs

Amicus announced a major collaboration with the Gene Therapy Program in the Perelman School of Medicine at the University of Pennsylvania (Penn) to pursue research and development of novel gene therapies for Pompe disease, Fabry disease, CDKL5 Deficiency Disorder (CDD) and one additional undisclosed rare metabolic disorder. This relationship will combine Amicus’ protein engineering and glycobiology expertise with Penn’s adeno associated virus (AAV) gene transfer technologies to develop AAV gene therapies designed for optimal cellular uptake, targeting, dosing, safety and manufacturability.

Our preclinical pipeline also includes gene therapy AAV programs using AAV in other Lysosomal Storage Disorders, including Niemann Pick C, Wolman Disease, Tay Sachs and other disorders.