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Pompe disease is a rare genetic disorder produced by a deficiency or absence of alpha-glucosidase enzyme leading to glycogen accumulation in several tissues including but not limited to cardiac and skeletal muscle. Two main clinical phenotypes have been classically described: Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD) that share skeletal muscle weakness. There is scarce data from Spain regarding the existing number of cases, their regional distribution, the genetic and clinical features or the number of patients that are receiving treatment. We have developed the Spanish Pompe Registry, which is doctor initiated and a dedicated data entry who visits all sites and include data of patients with a consent form. Here we analyzed the data of the 122 patients included between 2019 and 2022 including LOPD and IOPD phenotypes from 29 sites in Spain. We collected information about demographics, family history, clinical features, ancillary tests, functional outcomes and response to treatments from each individual clinical report. 113 patients were classified as LOPD while 9 had an IOPD phenotype. 68 patients were males (55,7%). The mean age of our population was of 28.65 years old (SD 42,75). 44 patients had family history of Pompe, being in 39 of them their siblings. The most common place of birth reported was Andalusia (23) followed by Catalonia (19). The origin of the family was obtained in 71 patients, being the most common region Andalusia (38 progenitors) followed by Catalonia (10 progenitors). 98 patients were symptomatic. The most frequent symptom reported was lower limb and axial weakness in 60.7%. 40 patients required ventilation support being non-invasive in 34 patients and invasive in 6 patients. 93 had high levels of CK with a mean value of 716 UI/L. The most common mutation reported was IVS1-13T>G (c.‐13‐32T>G) in 81 patients. None of the IOPD patients carried the IVS1-13T>G mutation. 89 patients were treated with ERT with Myozyme™ being the mean period of treatment of 8 years (Range 4 months – 18 years). The Spanish Pompe Registry give us valuable information about the demographics and clinical features of our population of patients with this rare disease. A better understanding of the disease and its distribution along the country may contribute to improve the quality of their health assistance. [ABSTRACT FROM AUTHOR]