CRANBURY, N.J., Sept. 6, 2012 (GLOBE NEWSWIRE) -- Amicus Therapeutics (Nasdaq:FOLD), a biopharmaceutical company at the forefront of therapies for rare and orphan diseases, today announced updated details on patients screened for one of the global Phase 3 registration studies ( Study 011) to investigate the pharmacological chaperone migalastat HCl for Fabry disease. These results were presented in a poster 1 at the Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium 2012 ( SSIEM 2012).
- A total of 180 Fabry patients (60 males and 120 females) were screened for Study 011. Prior to screening sites could have used genotype information when available to enrich for Fabry patients with amenable mutations who were more likely to be interested in participating.
- Approximately 86% (154/180) of patients screened had missense mutations (compared to a current estimate in the Fabry population of approximately 60%)
- Approximately 88% (136/154) of those patients, or 76% of patients screened, had alpha-galactosidase A mutations amenable to migalastat HCl monotherapy, and were potentially eligible for enrollment.
- Approximately 50% (67/136) of those patients, or 37% of all patients screened, enrolled in Study 011 upon meeting all entry criteria, including: 1) naïve to ERT or had not received ERT for at least 6 months prior to study entry; 2) genetic mutations amenable to chaperone monotherapy and; 3) for study purposes, urine globotriaosylceramide (GL-3) levels at least four-times the upper limit of normal at baseline.