P.85 Analysis of Juvenile onset Pompe disease patients included in the Spanish Pompe Registry

Late Onset Pompe patients (LOPD) is the main phenotype on Pompe disease that start with symptoms from the age of two years to late in the adulthood. Because of the heterogeneity of the disease, it has been described the Juvenile Onset Pompe Disease (JOPD) subgroup, who become symptomatic between 2 and 18 years old. We describe the demographic and clinical features of all JOPD patients and their progression (using six-minute walking test -6MWT-, forced vital capacity -FVC- and Creatin Kinase -CK- values and comparing it with the other LOPD patients) registered at the Spanish Pompe Registry (SPR), with 121 patients registered in Spain. We identified 28 JOPD patients (18.8%) in the SPR, with 16 males (57%), median age of symptoms onset was 8.5 years. The most frequent mutation was c.32-13T>G in 19 patients (68%). HyperCKemia was the most common reason for diagnosis in 17 (61%) patients. 19 patients (68%) developed muscle symptoms, being lower limbs weakness the most predominant (13). 9 (34.6%) developed respiratory symptoms, 2 (7%) of them before 18 years. All JOPD received Enzyme Replacement Therapy. JOPD patients showed significantly baseline higher CK values compared to LOPD (p<0.001) but tended to decline over time, without any significant difference of the progression of CVF and 6MWT (Mann-Whitney test). Most of the JOPD patients in the SPR were diagnosed because of hyperckemia, and lower limbs muscle weakness before 18 years old. We have not identified differences in the progression of the disease between JOPD patients and LOPD patients. Late Onset Pompe patients (LOPD) is the main phenotype on Pompe disease that start with symptoms from the age of two years to late in the adulthood. Because of the heterogeneity of the disease, it has been described the Juvenile Onset Pompe Disease (JOPD) subgroup, who become symptomatic between 2 and 18 years old. We describe the demographic and clinical features of all JOPD patients and their progression (using six-minute walking test -6MWT-, forced vital capacity -FVC- and Creatin Kinase -CK- values and comparing it with the other LOPD patients) registered at the Spanish Pompe Registry (SPR), with 121 patients registered in Spain. We identified 28 JOPD patients (18.8%) in the SPR, with 16 males (57%), median age of symptoms onset was 8.5 years. The most frequent mutation was c.32-13T>G in 19 patients (68%). HyperCKemia was the most common reason for diagnosis in 17 (61%) patients. 19 patients (68%) developed muscle symptoms, being lower limbs weakness the most predominant (13). 9 (34.6%) developed respiratory symptoms, 2 (7%) of them before 18 years. All JOPD received Enzyme Replacement Therapy. JOPD patients showed significantly baseline higher CK values compared to LOPD (p<0.001) but tended to decline over time, without any significant difference of the progression of CVF and 6MWT (Mann-Whitney test). Most of the JOPD patients in the SPR were diagnosed because of hyperckemia, and lower limbs muscle weakness before 18 years old. We have not identified differences in the progression of the disease between JOPD patients and LOPD patients.