Possible oral enzyme replacement therapy instead of IV infusion?

This gives me hope that Hannah may not have to have IV infusions (Cerezyme) when she is older for the physical symptoms of Gaucher’s Disease!  Being able to take a pill would be so much easier!!!!  Need to keep my eye on this one!  (Hopefully we don’t have to worry about neuro symptoms, but if we do, we have a lot more work to do!)

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Amicus Therapeutics Presents Positive Data from Phase 2 Clinical Trial of Plicera(TM) for Gaucher Disease

Amicus Therapeutics, a biopharmaceutical company developing small-molecule, orally administered pharmacological chaperones for the treatment of human genetic diseases, announced today that the Company will present positive results from a Phase 2 clinical study of Plicera(TM) (isofagomine tartrate) for Gaucher disease at the American College of Medical Genetics (ACMG) Annual Meeting from March 12-16 in Phoenix, AZ. Results from the fully enrolled Phase 2 trial support the previously reported interim findings that Plicera was generally safe and well tolerated at all doses and increased target enzyme activity levels in a majority of patients.

Phase 2 Plicera data presented at ACMG

The primary objective of this study was to evaluate safety and tolerability of different doses and dosing regimens of Plicera. The secondary objective was to evaluate certain pharmacodynamic measures of treatment, including effects on GCase (the enzyme deficient in individuals with Gaucher disease) levels in white blood cells.

Thirty patients with Gaucher disease (8 men and 22 women between the ages of 18 and 63) were enrolled, and there were 12 unique alleles represented including the most common N370S and L444P mutations. Patients were on enzyme replacement therapy (ERT) with imiglucerase for an average of 9 years prior to entering the trial, and they temporarily discontinued ERT to receive Plicera for the 4 week duration of the study.

    The key findings from the trial were as follows:

      -- Plicera was generally well-tolerated at all doses evaluated,
         and no serious adverse events were reported.
      -- GCase activity as measured in white blood cells was increased
         in 20 of the 26 patients with evaluable GCase data, and 5 of
         the 6 patients without a clear increase were either in the
         lowest dose cohort or the cohort dosed least frequently.
      -- As expected in this short term study, the levels of relevant
         markers of Gaucher disease including platelet counts,
         hemoglobin levels, glucocerebroside (substrate) levels,
         chitotriosidase activity and pulmonary activation-related
         chemokine (PARC) levels were maintained.

“These data give us great confidence in moving our Gaucher program forward,” said John F. Crowley, President and CEO of Amicus Therapeutics. “In addition to a 6-month Phase 2 study in individuals naive to ERT, which is currently underway, we plan to initiate a longer-term study in individuals switching from enzyme replacement therapy to Plicera in the second half of this year.”