French Registry for Pompe Disease (Certified Registry) FRESH-PEF2589-en Pascal LAFORET French Registry for Pompe Disease (Certified Registry) FRESH-PEF2589-en 2589 FRESH-PEF2589 Pascal LAFORET ASSOCIATION INSTITUT DE MYOLOGIE (AIM) Epidemiology France Portal (PEF) ASS FRANCAISE CONTRE LES MYOPATHIES (AFM) INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE (INSERM) SANOFI (FRANCE) SANTE PUBLIQUE FRANCE null Pascal;LAFORET assessment tolerance efficacy Endocrinology Neurology Healthcare system determinants: Use of care Healthcare system determinants Objectives of the registry in the field of public health: - To collect epidemiological data on Pompe disease in France and calculate exactly how many patients are affected by this disease. - To assess the tolerance and efficacy of Myozyme, the only treatment currently effective against Pompe disease. However, standardised long-term follow-up for patients is necessary due the significant cost on the healthcare system. Homogeneous and standardised information on patients suffering from Pompe disease and treated with Myozyme is collected every six months for patients undergoing treatment and every twelve months for other patients. Objectives of the registry in the field of clinical research: -This registry is also aiming to improve knowledge on the natural history of the disease in untreated patients, as well as determine the frequency and severity of unusual disease manifestations (cerebral arterial malformations, digestive problems, sphincter problems, etc.). Objectives of the registry in the therapeutic field: - It is probable that other therapeutic approaches will be developed in the years to come, at which point a separate registry will certainly have a defining role in recruiting patients for these future trials, and may facilitate the comparison of results with results obtained from patients undergoing enzyme replacement therapy. null France Individuals Patients population Male Female Infant, Newborn (birth to 28 days) Infant (28 days to 2 years) Child, Preschool (2 to 5 years) Child (6 to 12 years) Young Adult (19 to 24 years) Adult (25 to 44 years) Middle Aged (45 to 64 years) Aged (65 to 79 years) Aged, 80 and over (80 years and more) Patients are only included in the registry when the diagnosis of Pompe disease is confirmed by biochemical (detection of acid alpha-glucosidase deficiency in the blood, muscle or fibroblasts) and/or genetic analysis. Clinical data Biological data Socio-demographic data Paraclinical data (non-biological) : Function testing Health event/morbidity Health event/mortality Health care consumption and services Other < 500 individuals Interview with the participant (including clinical) Observational Study Observational Study Morbidity registry The calculated incidence of all forms of Pompe disease is estimated at 1/40,000. Over 100 patients have already been diagnosed with Pompe disease in France. Unknown Restricted access Database hosted on a 4D server with access by request. Secure internet access under construction. Access on specific project only