Pompe disease trials in Italy

In Italy 7 Also abroad 30

7 trials · From ClinicalTrials.gov and EU CTIS (euclinicaltrials.eu), checked 11 November 2026. Ask the study team whether a trial fits you.

No phaseTaking people
Pompe Disease Registry Protocol
Where
Brescia, Cagliari, Cona, Florence, Genoa, Gussago, Messina, Milan, Monza, Naples, Padova, Padua, Pavia, Pisa, Roma, Rome, Torino, Udine
People
2,000 worldwide
Run by
Genzyme, a Sanofi Company
See details and how to joinNCT00231400
Phase 2Taking people
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.
Where
Messina, Turin
Age
18 years to 64 years
People
21 worldwide
Run by
Shionogi B.V.
See details and how to join2025-522146-40-00 · EU 2025-522146-40-00
No phaseTaking people
Phrenic Nerve and Diaphragm Electrophysiology in Pompe Disease
Where
Pavia
Age
18 years and over
People
20
Run by
IRCCS National Neurological Institute "C. Mondino" Foundation
See details and how to joinNCT07664930
Phase 2Taking people
Study of S-606001 as an Add-on to Enzyme Replacement Therapy (ERT) in Participants With Late-onset Pompe Disease (LOPD)
Where
Messina, Torino
Age
18 years and over
People
45 worldwide
Run by
Shionogi
See details and how to joinNCT07123155
No phaseTaking people
Pompe Pregnancy Sub-Registry
Where
Brescia, Cagliari, Florence, Genova, Messina, Milan, Monza, Padova, Padua, Pavia, Roma, Rome
People
20 worldwide
Run by
Genzyme, a Sanofi Company
See details and how to joinNCT00567073
No phaseTaking people
A Global Prospective Observational Registry of Patients With Pompe Disease
Where
Bari, Naples, Torino, Udine
People
500 worldwide
Run by
Amicus Therapeutics
See details and how to joinNCT06121011
Phase 3Taking people
A Study to Evaluate the Safety, Efficacy, PK, PD and Immunogenicity of Cipaglucosidase Alfa/Miglustat in IOPD Subjects Aged 0 to <18
Where
Naples, Padova, Turin
Age
Up to 17 years
People
36 worldwide
Run by
Amicus Therapeutics
See details and how to joinNCT04808505 · EU 2022-501095-25-01