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ST. LOUIS – (COMMERCIAL THREAD) – M6P Therapeutics (“M6PT” or “the Company”), a privately held life sciences company developing next-generation recombinant enzyme and gene therapies for lysosomal storage disorders (LSD), today announced the Company’s participation in the 17e International Congress on Neuronal Ceroid Lipofuscinosis (NCL), or NCL2021, to be held October 6-10, 2021 at the Eric P. Newman Education Center (EPNEC), on the campus of the Washington University School of Medicine in St. Louis. Linda Zhao, member of Dr. Lin Liu’s R&D team, will present the abstract titled “TPP1 with increased mannose 6-phosphate content and cell uptake for Neuronal ceroid lipofuscinosis type 2 disease” at NCL2021.

“Although it is not known how many people have Batten disease globally, the number, by some estimates, is 1 in 12,500 people in some populations. Batten also affects about 2 to 4 in 100,000 children. in the United States, “noted Pawel Krysiak, President and CEO of M6P Therapeutics.” However, the prevalence of this disease is insignificant in relation to the severity of its symptoms and the impact of the disease on patients. and their families As such, M6PT supports its mission to study and develop the best next-generation recombinant enzyme and gene therapies for LSDs by unleashing the potential of the company’s S1S3 bicistronic platform technology.

The summary, along with the in vitro study conclusion presented at NCL2021, will highlight data from M6PT, which suggests that its S1S3 bicistronic platform increases the mannose 6-phosphate (M6P) content of the tripeptidyl enzyme. peptidase 1 (TPP1), a lysosomal enzyme that is deficient in patients with Batten disease. M6PT suggests that by enhancing the M6P phosphorylation of TPP1, its platform technology enables more efficient delivery of the enzyme to the cell, which is potentially beneficial as a recombinant enzyme therapy and / or gene therapy for treatment. of Batten’s disease. The term “Batten’s disease” originally referred specifically to the juvenile form of NCL and is increasingly used to describe all forms of NCL.

Batten’s disease belongs to a larger group of diseases known as lysosomal storage disorders (LSD) for which M6PT is currently developing the Company’s proprietary S1S3 bicistronic platform as a promising treatment for LSD. Neuronal ceroid lipofuscinosis type 2 (CLN2) is a neurodegenerative disease caused by autosomal recessive mutations in the TPP1 gene, leading to a deficiency of TPP1, a lysosomal enzyme.

This deficiency results in the accumulation of intracellular autofluorescent ceroid lipofuscin, eventually causing neuronal dysfunction. The onset of symptoms usually begins between the ages of two and four, followed by a period of rapid progression before CLN2 disease is fatal. M6PT has developed a new bicistronic platform to co-express a modified GlcNAc-1-phosphotransferase, called S1S3, with lysosomal enzymes. This platform generates lysosomal enzymes with improved phosphorylation on N-glycans by producing more high-mannose glycans modified by M6P.

The study

Recombinant TPP1 enzymes were produced by Expi293 suspension cells using plasmids to express TPP1 alone or a bicistronic expression construct to express both TPP1 and S1S3. Recombinant proteins were then assayed from conditioned media and cell lysates. Analysis of the enzyme by Endo H and PNGase F treatment demonstrated increased levels of mannose-rich N-glycans present on TPP1 co-expressed with S1S3 compared to TPP1 alone. Glycan M6P plays an essential role in the trafficking of lysosomal enzymes to lysosomes and may facilitate endocytosis of extracellular proteins through their interaction with the cation-independent mannose-6-phosphate receptor (CI-MPR).

M6PT data showed that TPP1 co-expressed with S1S3 displayed increased binding to CI-MPR compared to TPP1 expressed alone. In addition, the TPP1 enzyme generated by the S1S3 bicistronic vector showed enhanced cellular uptake by fibroblast cells of CLN2 patients via the CI-MPR receptors, which was inhibited by the application of M6P to the medium. In conclusion, the data suggests that the S1S3 bicistronic platform of M6PT increases the M6P content of the enzyme TPP1 which allows for more efficient delivery of the enzyme to the cell, which would be beneficial for recombinant enzyme replacement therapy. and gene therapy.

About Batten disease

Batten’s disease refers to a group of conditions that affect the nervous system. Batten’s disease originally referred specifically to the juvenile and more common form of neuronal ceroid lipofuscinosis (NCL), now known as CLN3. However, the term Batten disease is increasingly used to describe all forms of CNL. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders. Signs and symptoms vary widely from form to form, but usually include a combination of dementia, vision loss, and epilepsy. Although NCLs have historically been classified based on their age of onset and clinical symptoms, the most recent classification system is primarily based on their underlying genetic cause. Most forms are inherited autosomal recessively; however, autosomal dominant inheritance has been reported in an adult onset form (neuronal ceroid lipofuscinosis 4B). Treatment options are limited to therapies that can help relieve some of the symptoms.

About NCL2021

NCL International Congresses bring together researchers, clinicians, patient support groups, affected family members and the pharmaceutical industry. We are committed to promoting participation in NCL2021 and opportunities for students, postdoctoral fellows and early career researchers to present their research.

The mission of NCL2021 is to:

  • Provide a forum to present the latest advances in scientific, clinical and translational research on NCLs

  • Promote the highest level of scientific and clinical presentations, while making this science accessible to affected families and other lay people

  • Bring together NCL researchers and clinicians with NCL patient organizations and affected families, promoting clear and effective communication between these groups

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About M6P Therapeutics

M6P Therapeutics is a private, venture-funded biotechnology company developing the next generation of targeted recombinant enzyme and gene therapies for lysosomal storage disorders (LSD). M6P Therapeutics’ proprietary S1S3 bicistronic platform has the unique ability to enhance phosphorylation of lysosomal enzymes for recombinant enzyme and gene therapies, leading to improved biodistribution and cellular uptake of recombinant proteins and efficient cross-correction of the product. gene therapy. This can potentially lead to more effective treatments with a lower therapeutic burden, as well as new therapies for currently untreated diseases. The M6P Therapeutics team, with a proven track record in the development and commercialization of rare disease drugs, is dedicated to realizing the promise of recombinant enzyme and gene therapies by harnessing the power of protein phosphorylation at the using its S1S3 bicistronic platform. M6P Therapeutics’ mission is to translate advanced science into first-class therapies that address unmet needs within the LSD community. For more information, please visit:


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