Résumé :
|
Introduction: Recombinant human alpha al-glucosidase (rhGAA; Myozyme® Genzyme), an enzyme replacement therapy (ERT) for Pompe disease (PD; acid maltase deficiency, glycogenosis type II), was first used in France for late-onset patients in May 2005 and authorisation for European use was granted in March 2006. An 18-month international double-blind placebo-controlled efficacy study (Late Onset Treatment Study; AGLU02704) was completed in mid-2007. Early results show small but statistically significant improvements in the primary endpoints—vital capacity and 6-minute distance walked. Objectives: The Registry was established in 2004 as a database for PD natural history independent of industry control. Data submission to the Registry is a requirement for government funding of GAA. Certain data will be passed on to the international Genzyme PD database. Methods: Information is collected at French neuromuscular treatment centres and maintained at the Institute of Myology in Paris on a secure webserver with protected access. Adult PD patients, treated and untreated, are currently included; inclusion of infants is planned. Patients' written consent is required. Data are collected anonymously on inclusion then every 6 months for GAA-treated patients and annually for untreated patients: disease history, diagnostic results (muscle biopsies, muscle enzyme activity, genetic data), videotaped muscle strength assessments, tests of respiratory, cardiac and hearing function, and reviews of other systems. Results: Approximately two thirds (N=66) of patients currently diagnosed in France are included on the Register, of whom 47 are currently treated with GAA. 17 centres have provided data. Treatment/nontreatment comparisons at 1 yr will be presented. Conclusion: In view of the continuing increase in the number of GAA-treated patients, the principle role of the French Registry is now to monitor the long-term efficacy and safety of this very high-cost treatment. Post-treatment and natural history data are also available for use in trial design, patient selection and patient monitoring. Acknowledgements. This work was supported by the Association Française des Glycogénoses (AFG) and the Association Française contre les Myopathies (AFM).
|