KOL Webinar: Developing Next-Generation Therapies for Lysosomal Storage Disorders

August 2021

Listen to the full webinar here

M6P Therapeutics (M6PT) hosted a KOL Webinar on Lysosomal Storage Disorders (LSDs) featuring Mark S. Sands, Ph.D., Professor in the Departments of Medicine and Genetics at Washington University School of Medicine in St. Louis., and Gregory Enns, M.D., Professor of Pediatrics and Genetics at the Lucile Salter Packard Children’s Hospital Stanford School of Medicine.

Drs. Sands and Enns engaged in a lively discussion with our President and CEO, Pawel Krysiak, in which they provided both clinical and research perspectives of LSDs and discussed the impact of these life-threatening disorders through the binoculars of scientists seeking to build better clinical tools for physicians seeking innovative ways to help their patients living with LSDs. The discussion underscored the unmet medical needs for patients with LSDs and highlighted the potential of our S1S3 bicistronic platform that enables phosphorylation with mannose 6-phosphate (M6P) for purposes of improving biodistribution for both recombinant enzyme- and gene therapies-based LSD treatments.


Overview of LSDs

LSDs are a group of more than 50 inherited diseases that are associated with serious and life-threatening complications, most of which do not have treatment options. LSDs present in infancy, childhood, adolescence, or adult years and are characterized by a specific lysosomal enzyme deficiency that impedes the body’s cells from performing their normal functions. The lysosomes are specialized intracellular organelles that breakdown and recycle proteins, lipids, carbohydrates, and damaged mitochondria to fundamental building blocks (e.g., amino acids, simple sugars, etc.) for producing new biomolecules. When this does not happen, substrate accumulates that impairs the lysosome, the cell, the organ, leading to morbidity and mortality for the affected individual.


Challenges with Current Treatment Options for LSDs

Dr. Enns highlighted the challenges for current treatment options for the few LSDs that have treatment options: current lysosomal recombinant enzyme and gene therapies lack enough M6P to allow efficient uptake via the M6P receptor (the pathway to the lysosome). Dr. Sands added that most current and potential treatments, both recombinant enzyme and gene therapies, contend with poor biodistribution and cellular uptake. He continued by noting that recombinant enzyme therapy approaches do not cross the blood-brain barrier, thus are not able to stop or reverse the progression of the disease.


Our Approach: Recombinant Enzyme and Gene Therapies

Mr. Krysiak introduced our S1S3 bicistronic platform technology and explained our approach to drug development. Using our platform technology, we create recombinant enzyme and gene therapies by increasing the M6P content on the lysosomal enzymes. This improves enzyme uptake and distribution across target tissues and allows us to restore the enzymatic activity resulting in targeted therapies that reach the injured lysosomes, cells, and organs. With our approach, we have the potential to develop treatment options for patients with LSDs that have approved therapies, potentially resulting in:

  1. Increased efficacy across more tissue types
  2. Lower dose/protein load compared to currently marketed alternatives
  3. Reduced risk of immunogenicity
  4. Less frequent infusions that lower therapy burden

Mr. Krysiak continued by highlighting that our initial research programs are focused on Gaucher disease, Fabry disease, Pompe disease, and mucolipidosis II (MLII), and we plan to initiate our first clinical program in 2022.

It’s always a great privilege when our team connects with KOLs like Drs. Sands and Enns. Their experiences, insights, and guidance support our efforts to advance our approach, which has the potential to deliver efficacious treatments with a low therapy burden for diseases where there are already treatment options and address LSDs where there are currently no treatment options available.

To listen to the full webinar, click here. To learn more about our innovative technology platform and promising pipeline of LSD programs, visit