Pompe disease: who works on it

One card per institution. Filter by target, by country, or show only institutions in EU-13 (Horizon Europe widening) countries.

EU-13 is a filter, not a ranking: it only narrows the list.

24 of 74 institutions, ordered by recent publications and open trials. This is not a ranking of quality.

Terminated, withdrawn and suspended trials with the reason the sponsor gave in the registry, quoted word for word.

• Withdrawn

  Phase II Clinical Trial of Clenbuterol in Adult Patients With Pompe Disease

  NCT04094948· Duke University· Updated 17 Aug 2022

  “hasn't got the funding”Registry text, quoted unchanged. Source

Trials whose registry record says individual participant data (IPD) will be shared.

• A phase 2, randomized, double-blind study of S-606001 as an add-on to enzyme replacement therapy in patients with late-onset Pompe disease.

  2025-522146-40-00· Shionogi B.V.· Source

• Avalglucosidase Alfa French Post-trial Access for Participants With Pompe Disease (PTA Avalglucosidase)

  NCT05164055· Genzyme, a Sanofi Company· Source

• A Prospective Study to Observe & Describe Clinical Outcomes of Alglucosidase Alfa Treatment in Patients ≤6 Months of Age With Infantile-onset Pompe Disease (IOPD)

  NCT04848779· Sanofi· Source

• Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa

  NCT04910776· Sanofi· Source

• China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD

  NCT06666413· Genzyme, a Sanofi Company· Source

• A Study to Assess Safety and Efficacy of Avalglucosidase Alfa Administered Every Other Week in Pediatric Patients With Infantile-onset Pompe Disease Previously Treated With Alglucosidase Alfa

  NCT03019406· Genzyme, a Sanofi Company· Source

• Avalglucosidase Alfa Pregnancy Study

  NCT05734521· Sanofi· Source

• GLYCOGEN RESPONSE TO ENZYME REPLACEMENT THERAPY IN POMPE DISEASE

  2023-508000-37-01· Rigshospitalet· Source

• Study to Evaluate Efficacy and Safety in Chinese Patients With Late Onset Pompe Disease With Alglucosidase Alfa Treatmen

  NCT04676373· Genzyme, a Sanofi Company· Source

• Treatment Frequency Reduction in Pompe Disease

  NCT06575829· Erasmus Medical Center· Source

Find publications on this disease by a MeSH method term, for example a sequencing or imaging method.

• CRISPR-Cas Systems 1
• Magnetic Resonance Imaging 9
• Cohort Studies 3

• Evaluation of electrical impedance myography as a noninvasive musculoskeletal biomarker in infantile- and late-onset Pompe disease.

  Genet Med, Jul 2026

• Quantitative Muscle MRI of the Lower Extremities Reveals Different Patterns of Involvement in Classic Infantile and Young Late-Onset Pompe Patients.

  J Inherit Metab Dis, Jul 2026

• Longitudinal Assessment of Muscle Involvement in Late-Onset Pompe Disease Using Quantitative MRI: A Prospective Cohort Study.

  J Cachexia Sarcopenia Muscle, Jun 2026

• Detection of Altered Muscle Glycogen- and NOE-Weighted CEST MRI Signals in an Acid Alpha-Glucosidase-Deficient Mouse Model of Pompe Disease Using QUASS-Enhanced Multi-Pool Quantitative CEST (QCEST) Imaging.

  Magn Reson Med, May 2026

• Cardiac magnetic resonance in Pompe disease: a systematic literature review.

  Radiol Med, Apr 2026

• Mapping glycogen accumulation and treatment effect in Pompe disease with saturation transfer MRI.

  Transl Res, Feb 2026

• Plasma glial fibrillary acidic protein (GFAP) is a biomarker for central nervous system involvement in infantile-onset Pompe disease.

  EBioMedicine, Jan 2026

• Quantitative MRI Biomarkers for Early Muscle Involvement in Late Onset Pompe Disease.

  J Inherit Metab Dis, Jan 2026

• Presymptomatic late-onset Pompe disease: Optimizing the timing of treatment.

  Rev Neurol (Paris), Nov 2025

See which targets of this disease your abstract mentions, and go to the people working on them.