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).
Migalastat HCl is in Phase 3 development for Fabry disease in patients with genetic mutations that are amenable to this chaperone as a monotherapy. Study 011 - also referred to as FACETS - is one of two ongoing Phase 3 studies of migalastat HCl monotherapy being conducted by Amicus and GlaxoSmithKline (GSK). Updated screening profiles at SSIEM included the following:
- 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.
Pol F. Boudes, MD, Chief Medical Officer of Amicus Therapeutics stated, "Not all Fabry patients have been genotyped and new patients continue to be diagnosed. During screening for Study 011, we discovered 15 unique missense mutations that contribute to the growing database of new mutations within the broader Fabry population. We continue to believe the randomized population in Study 011 is fairly representative of a broad range of Fabry patients by gender, disease burden, and genotype."