P379 Spanish Pompe registry: new data based on the 130 patients included.

Pompe disease is a rare genetic myopathy with two main clinical phenotypes: Infantile Onset Pompe Disease (IOPD) and Late Onset Pompe Disease (LOPD). Epidemiological studies showed a disease prevalence about 1:40.000 but reliable data in Spain in lacking. Here we analyzed the data of the 130 patients in the Spanish Pompe, included between 2019 and 2023. We collected information about demographics, family history, clinical features, ancillary tests, functional outcomes and response to treatments from each individual clinical report. One-hundred-eighteen patients were classified as LOPD while 12 had an IOPD phenotype. Seventy patients were males (53.85%). Mean age of our population was of 29.75 years old (SD 42.75). 44 had family history of Pompe, being most common place of birth and parent's origin Andalusia, 100 patients were symptomatic. The most frequent symptom reported was lower limb and axial weakness in 60.7%. Ninety-one patients preserved their ability to walk in their last visit. Forty patients required ventilation support (34 non-invasive). Ninety-three patients had high levels of CK with a mean value of 716 UI/L (SD 457.99). The most common mutation reported was IVS1-13T>G (c.‐13‐32T>G) in 85 patients. 89 were treated with Enzyme Replace Therapy. According to our data the Pompe prevalence is 3/1.000.000 in our country. The Spanish Pompe Registry give us valuable information about the demographics and clinical features of our population of patients with this rare disease. yielding us a lower prevalence than expected. [ABSTRACT FROM AUTHOR]