To celebrate International Pompe Day on 15^th April 2017, IPA has expanded the annual art contest to include any art form that shows off the talents of individuals living with Pompe and their family members. Choosing winners of the ToP Award will be a challenge in itself; but our aim is to celebrate the wide range of talents within the international Pompe community. All submissions will be displayed in a special section of the IPA website after the event.

Concord, MA-- March 3, 2017-- Valerion Therapeutics announced today that it has developed a fusion protein, VAL-1221, which combines its proprietary antibody delivery technology with recombinant human acid alpha-glucosidase (rhGAA) to improve the delivery of rhGAA into affected tissues of patients with Pompe disease (Glycogen Storage Disease, Type II; GSDII). Pompe disease is caused by a deficiency of the lysosomal enzyme, GAA, that leads to accumulation of glycogen in multiple tissues, with cardiac and skeletal muscles being the most severely affected. Glycogen, a complex sugar, is known to accumulate in both the lysosomes and cytoplasm of late-onset Pompe disease patients. However, the currently approved enzyme-replacement therapy is limited to the lysosome for therapeutic activity.

In a study recently published by Sun et al, Duke University, Division of Medical Genetics (J Mol Med, 2 Feb, 2017), Valerion’s proprietary antibody-mediated enzyme replacement therapy [VAL-1221 (humanized 3E10Fab-GAA)] demonstrated efficacy in both cultured Pompe patient fibroblasts and in Pompe (GAA-deficient) mice. Importantly, not only did VAL-1221 reduce lysosomal glycogen accumulation as effectively as rhGAA (current enzyme replacement therapy or ERT) but it was also demonstrated to penetrate living cells independent of the mannose-6-phopsphate receptor (M6PR), the mechanism of cell entry associated with current ERT which directs enzyme to the lysosome. These results suggest that VAL-1221 has potential benefit over current ERT by clearing both lysosomal and cytoplasmic glycogen.

Valerion is initiating a clinical trial in both the US (Duke University Medical Center) and the UK (The National Hospital for Neurology and Neurosurgery, London) next month to evaluate this novel therapy in patients with late-onset Pompe disease.

“We believe our findings are a game-changer in the treatment of Pompe disease,” said Deborah Ramsdell, Valerion’s Chief Executive Officer. “We are excited about the potential to help patients who are looking for alternatives to the current approved therapy.” This randomized, parallel active control, single and repeat dose, dose-escalation study will evaluate the safety, tolerability, pharmacokinetics, pharmacodynamics and preliminary efficacy of VAL-1221 in ambulatory and ventilator-free patients with late-onset Pompe Disease. Top line results are expected later this year. 100 Main Street, Suite 110, Concord, MA 01742

“The approach is different from other ERT approaches as this has the ability to act on glycogen in the cytoplasm. This remains a challenge in the field of Pompe disease,” said Dr. Priya Kishnani, Principal Investigator at Duke University Medical Center. “Glycogen that is leached out (either due to shearing effect or rupture of lysosomes) into cytoplasm needs to be cleared. The collaboration with Valerion is an important one as it allows us to look at whether VAL-1221 has this additional benefit.” ...

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CRANBURY, N.J., March 01, 2017 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq:FOLD)... provided program updates. John F. Crowley, Chairman and Chief Executive Officer of Amicus Therapeutics, Inc. states that "establishing our novel Pompe treatment paradigm ATB200/AT2221 as a highly differentiated therapy" is one of five key strategic priorities...

Program Update: ATB200/AT2221 for Pompe Disease

ATB200/AT2221 is a novel treatment paradigm that consists of ATB200, a unique recombinant human acid alpha-glucosidase (rhGAA) enzyme with optimized carbohydrate structures, particularly mannose-6 phosphate (M6P), to enhance uptake, co-administered with AT2221, a pharmacological chaperone. Positive preliminary data were reported in the fourth quarter of 2016  and during the 13th Annual WORLDSymposium™ in San Diego, CA in February 2017 from a global clinical study (ATB200-02) to evaluate safety, tolerability, PK, and pharmacodynamics (PD) of ATB200/AT2221. The study is enrolling 3 cohorts of patients, including ambulatory ERT-switch patients (Cohort 1), non-ambulatory ERT-switch patients (Cohort 2), and ERT-naïve patients (Cohort 3).

Key Preliminary Data Highlights from ATB200-02 Study in Initial ERT-Switch and ERT-Naïve Patients:

• No infusion-associated reactions following 150+ infusions in initial patients treated for a maximum of 36 weeks (n=13)
• Available PK and PD (muscle and glycogen biomarkers) data through week 18 in eight initial ERT-switch patients and two ERT-naïve showed:
  • The desired PK profile
  • Improvements in key muscle damage biomarkers (creatine kinase (CK) enzyme, alanine aminotransferase (ALT), and aspartate aminotransferase (AST)) in a majority of ERT-switch patients and both ERT-naïve patients
  • Reductions in a biomarker of glycogen substrate urine hexose tetrasaccharide (Hex4) in all patients
• Target enrollment achieved across all patient cohorts 

Anticipated Upcoming Pompe Disease Program Milestones:

• ATB200-02 study data in additional naïve and non-ambulatory patients, as well as extension-phase data on all patient cohorts, in the second and third quarter of 2017
• Meetings with US and EU regulators

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