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Scientific Publications

Below please find a few of the most recent scientific publications developed by members of the M6PT clinical development team. The findings published below have been central to the creation, development, and optimization of our S1S3 co-expression platform technology. Our scientists are working to discover and develop next generation therapies for individuals with lysosomal storage disorders (LSDs), a family of more than 50 rare inherited diseases.

2025

  1. What is in Store for Pompe Disease Therapy? A More Potent ERT that Rapidly Normalizes Glycogen and Muscle Function Which Can Be Subsequently Maintained with Less Frequent Monthly Dosing. Poster session at WORLDSymposium, Feb. 4-7, 2025
  2. M021: A Novel Drug Candidate for Pompe Disease: Development of a Best-In-Class ERT for Pompe Disease. Poster session at WORLDSymposium, Feb. 4-7, 2025

2024

  1. Targeted protein degradation in lysosome utilizing naturally produced bifunctional antibodies with high levels of mannose 6-phosphate glycans. Poster session at Antibody Engineering and Therapeutics, Dec. 15-18, 2024.
  2. Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha-N-acetylglucosaminidase (Sanfilippo B syndrome). Poster session at Neuroscience 2024, Oct 5-9, 2024.
  3. Targeted protein degradation in lysosome utilizing naturally produced bifunctional antibodies with high levels of mannose 6-phosphate glycans. Manuscript preprint.
  4. Engineered GlcNAc-1-Phosphotransferase (S1S3 PTase) Dramatically Alters Glycosylation of Lysosomal Enzymes Leading to Enhanced Phosphorylation for Improved CI-MPR Binding. Poster session at Washington University Rare Disease Day, Feb. 28, 2024.
  5. M021 (rhGAA) Has an Optimal Oligosaccharide Composition That Allows for Efficient Reduction of Skeletal Muscle Glycogen and Recovery of Grip Strength in a Pompe Mouse Model. Poster session at Washington University Rare Disease Day, Feb. 28, 2024.
  6. M161 (rhGALNS) with Enhanced Phosphorylation with S1S3 Phosphotransferase may Introduce a More Efficacious MPS IVA ERT. Poster session at Washington University Rare Disease Day, Feb. 28, 2024.
  7. CLN2 Disease: S1S3 Phosphotransferase Mediated Phosphorylation, Uncovering, and Binding to CI-MPR of Tripeptidyl-peptidase 1 (TPP1). Poster session at Washington University Rare Disease Day, Feb. 28, 2024.
  8. An innovative gene therapy approach to produce novel human GALC variant with enhanced protein stability and enzyme activity with high levels of mannose 6-phophate for Krabbe disease. Poster session at Washington University Rare Disease Day, Feb. 28, 2024.
  9. M021 (rhGAA) Has a Unique Glycosylation Profile Which Enables More Efficient Glycogen Reduction and May Allow for Alternative Pompe ERT Dosing Strategies. Poster session at WORLDSymposium, Feb. 5-9, 2024.
  10. An Innovative Gene Therapy Approach to Produce Novel Human GALC Variant with Enhanced Protein Stability and Enzyme Activity with High Levels of Mannose 6-Phosphate for Krabbe Disease. Poster session at WORLDSymposium, Feb. 5-9, 2024.
  11. Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) Dramatically Alters Glycosylation of Lysosomal Enzymes Leading to Enhanced Phosphorylation for Improved CI-MPR Binding. Poster session at WORLDSymposium, Feb. 5-9, 2024.
  12. Optimized dual promoter AAV gene therapy for lysosomal β-glucocerebrosidase with high mannose-6-phosphate content for treatment of neuronopathic Gaucher disease. Poster session at WORLDSymposium, Feb. 5-9, 2024.

2023

  1. Hyperactive GlcNAc-1-Phosphotransferase (S1S3 PTase) Dramatically Alters Glycosylation of Lysosomal Enzymes Leading to Enhanced Phosphorylation for Improved CI-MPR Binding. Poster session at Society for Glycobiology Annual Meeting, Nov. 508, 2023.
  2. Novel AAV gene therapy produces β-glucocerebrosidase with high levels of M6P to enable cellular uptake and cross-correction in the CNS as a potential treatment for Type 2/3 Gaucher disease. Poster session at the 13th Annual Great Plains Rare Disease Summit, May 11-12, 2023.
  3. Highly phosphorylated β-glucocerebrosidase (M011) That Targets Central Nervous System Neurons as a Potenial Treatment for Neuronopathic Gaucher’s Disease Type 2 and 3. Poster session at the 13th Annual Great Plains Rare Disease Summit, May 11-12, 2023.
  4. CLN2 Disease: S1S3 Phosphotransferase Mediated Phosphoryla􀆟on and N-Glycan Uncovering Significantly Increases Binding Affinity of Tripeptidyl-peptidase 1 (TPP1) to CI-MPR. Poster session at the 13th Annual Great Plains Rare Disease Summit, May 11-12, 2023.
  5. M021: rhGAA with optimal glycosylation profile containing very high levels of bis-phosphorylated N-glycans clears accumulated glycogen and rapidly normalizes muscle strength in treated Pompe mice. Poster session at WORLDSymposium, Feb. 22-26, 2023.
  6. Highly phosphorylated β-glucocerebrosidase (M011) That Targets Central Nervous System Neurons as a Potential Treatment for Neuronopathic Gaucher’s Disease Type 2 and 3. Poster session at WORLDSymposium, Feb. 22-26, 2023.
  7. Highly phosphorylated β-glucocerebrosidase (M011) has much broader tissue targeting and superior substrate reduction with potential for alternative dosing strategies for the treatment of Type I Gaucher disease. Poster session at WORLDSymposium, Feb. 22-26, 2023.
  8. Novel AAV gene therapy produces β-glucocerebrosidase with high levels of M6P to enable cellular uptake and cross-correction in the CNS as a potential treatment for Type 2/3 Gaucher disease. Poster session at WORLDSymposium, Feb. 22-26, 2023.
  9. Dual promoter AAV gene therapy platform for producing soluble lysosomal enzymes with high M6P content in vivo to enable broad cellular uptake and cross correction. Poster session at WORLDSymposium, Feb. 22-26, 2023.

2022

  1. A novel AAV9 gene therapy for producing β-glucocerebrosidase enzyme with high mannose 6-phosphate content to treat Gaucher disease. Poster session at European Society of Gene & Cell Therapy Congress. Oct. 11-14, 2022
  2. M021: Pompe Enzyme Replacement Therapy with Highly Phosphorylated Oligosaccharides. Poster at the Society for Glycobiology Annual Meeting, Oct. 2-5, 2022.
  3. M002, a Novel AAV9-Mediated Gene Therapy in a Mucolipidosis Type II Mouse Model Utilizing a Truncated Phosphotransferase. Poster session at the 12th Annual Great Plains Rare Disease Summit. May 19-22, 2022
  4. A novel S1S3 PTase co-expression gene therapy platform for lysosomal storage disorders. Poster session at the 12th Annual Great Plains Rare Disease Summit. May 19-22, 2022
  5. Increased phosphorylation of HexM improves lysosomal uptake and potential for managing GM2 gangliosidoses.  BBA Adv. Vol 2, 2022
  6. A novel S1S3 phosphotransferase co-expression gene therapy platform for lysosomal disorders. Poster session at WORLDSymposium, Feb. 11, 2022.
  7. M021- A uniquely glycosylated, highly phosphorylated acid-alpha glucosidase enzyme replacement therapy for the treatment of Pompe disease. Poster session at WORLDSymposium, Feb. 11, 2022.
  8. M011 A novel highly phosphorylated β-glucocerebrosidase enzyme with broader tissue biodistribution for the treatment of Gaucher disease. Poster session at WORLDSymposium, Feb. 11, 2022.
  9. Co-expression of S1S3 phosphotransferase in production cell line improves mannose 6-phosphorylation and cellular uptake of alpha-N-acetylglucosaminidase (Sanfilippo syndrome type B). Poster session at WORLDSymposium, Feb. 11, 2022.

2021

  1. Recombinant human NAGLU with improved mannose 6-phosphorylation for Sanfilippo B syndrome. Poster session at the 16th International Symposium on MPS and Related Diseases, July 23-25, 2021.
  2. M002, a novel AAV9-mediated gene therapy in a mouse model of mucolipidosis type II. Poster session at the American Society of Gene & Cell Therapy (ASGCT) Annual Meeting, May 11, 2021.
  3. Mucolipidosis type II AAV9 gene therapy pilot study (M002): In vivo safety of over-expressing modified GlcNAc-1-phosphotransferase (S1S3) in wild-type mice. Poster session at WORLDSymposium, Feb. 12, 2021.
  4. Phosphorylated acid β-glucosidase (M011, GCaseM6P) enzyme replacement therapy leads to better tissue distribution, cellular uptake, and efficacy in the Gaucher D409A mouse model compared to conventional α-mannosyl terminated β-glucosidase. Poster session at WORLDSymposium, Feb. 12, 2021.

2020

  1. A new platform technology for next generation lysosomal enzyme replacement and potential gene therapy in the treatment of lysosomal diseases. Poster session at WORLDSymposium, Feb. 11, 2020.

2017

  1. Engineering Of GlcNAc-1-Phosphotransferase For Production Of Highly Phosphorylated Lysosomal Enzymes For Enzyme Replacement Therapy.  Mol Ther Methods Clin Dev. 2017 Jun 16; 5: 59–65.