Pompe disease: open trials in Italy

• NCT00231400

  Pompe Disease Registry Protocol

  Research · Genzyme, a Sanofi Company

  Brescia · Cagliari · Cona · Florence · Genoa · Gussago · Messina · Milan · Milan · Monza · Naples · Naples · Padova · Padua · Pavia · Pisa · Roma · Rome · Torino · Udine

  Registry updated 2026-10-28

• 2025-522146-40-00

  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.

  Trial Treatment · Phase 2 · Shionogi B.V.

  Università degli Studi di Messina, Messina · Azienda Ospedaliera Universitaria Citta Della Salute E Della Scienza Di Torino, Turin

  Registry updated 2026-09-18

• NCT07664930

  Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease

  Research · IRCCS National Neurological Institute "C. Mondino" Foundation

  Translational Neurophysiology, Pavia

  Registry updated 2026-06-24

• NCT07123155

  Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)

  Trial Treatment · Phase 2 · Shionogi

  A.O.U. Policlinico G. Martino, Messina · AOU Citta della Salute e della Scienza di Torino - Ospedale le Molinette, Torino

  Registry updated 2026-06-23

• NCT00567073

  Pompe Pregnancy Sub-Registry

  Research · Genzyme, a Sanofi Company

  Brescia · Cagliari · Florence · Genova · Messina · Milan · Monza · Padova · Padua · Pavia · Roma · Rome

  Registry updated 2026-04-16

• NCT06121011

  A Global Prospective Observational Registry of Patients With Pompe Disease

  Research · Amicus Therapeutics

  Azienda Ospedaliero Universitaria Consorziale Policlinico Di Bari, Bari · Centre of Expertise for muscular diseases and peripheral neuropathies European Reference Network for Rare Neuromuscular Diseases, Naples · Department of Neurosciences Rita Levi Montalcini, University of Torino, Torino · Regional Coordinating Centre for Rare Diseases, university Hospital of Udine, Udine, Italy, Udine

  Registry updated 2026-03-10

• NCT04808505

  A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18

  Trial Treatment · Phase 3 · Amicus Therapeutics

  Dipartimento Di Scienze Mediche Traslazionali, Naples · Azienda Ospedaliera di Padova, Padova · Azienda Ospedaliera Universitaria Citta Della Salute E Della Scienza Di Torino, Turin

  Registry updated 2026-01-22

All Pompe disease trials and the map

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