Perlara biotech is collaborating with the University of Notre Dame in Indiana and the Warren Family Research Center for Drug Discovery and Development to develop new treatments for glycogen storage disorders, including Pompe and Cori diseases.
Pompe disease mainly causes muscle weakness, impaired gait, and muscle pain. The three types are classic infantile-onset, which appears within a few months of birth; non-classic infantile-onset, which appears at about 1 year of age; and late-onset, which appears later in a child’s life, or even into the teen years or adulthood.
Pompe disease and Cori disease are both caused by defects in genes that produce enzymes that play a role in making or breaking down glycogen. Glycogen is responsible for energy storage in cells, mainly in the liver and muscles.
Pompe disease is called a GSD Type 2, and is caused by a deficiency of the enzyme acid alpha-glucosidase, or GAA, which normally breaks down glycogen. In Pompe patients, glycogen accumulates in tiny vesicles in cells, called lysosomes, resulting in muscle breakdown and damages to other organs.
During Stage One of Perlara’s PerlQuest — a journey of scientific discovery and drug development involving families, patient organizations, and BioPharma and clinical partners — simple models, such as nematodes (a kind of worm) and flies that mimic Cori and Pompe diseases will be created using genetic engineering.
The animal models will be used to screen for compounds that can potentially treat the diseases. The MicroSource Spectrum Collection, a collection of existing drugs and naturally-occurring compounds, will be screened to discover potential drugs that can be repurposed for these conditions.
“Our platform is well suited to evolutionarily and functionally conserved genes and pathways such as those involved in glycogen storage diseases like Cori and Pompe, and is designed for image-based phenotypic readouts of growth, development, morphology and behavior,” Ethan Perlstein, PhD, the founder and CEO of Perlara, said in a press release.
“With the addition of GSDs, we deepen our commitment to lysosomal diseases and by extension lysosomal biology,” he said.
Richard Taylor, a Notre Dame professor and Warren Center researcher, said the center is “excited to add Perlara to our collaborative project team seeking therapeutic leads for Cori and Pompe disease.”
“Perlara’s expertise in the development and screening of genetically engineered model systems complements our current efforts in this area and will accelerate the identification of small molecules as potential treatments for GSD patients,” Taylor added.