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Encouraging the Voice of the Patient In a New Trial Looking At In Utero Treatment For NGD At University of California San Francisco

13 October 2020

Encouraging the voice of the patient in a new trial looking at in utero treatment for nGD at University of California San Francisco, the IGA are supporting this work through disseminating this short survey to the global community.

ABOUT THE STUDY: Currently, children with Gaucher disease can be treated with enzyme replacement therapy (ERT) after birth, which slows the progress of the disease. However, we believe that giving ERT before birth could help patients with Gaucher even more. In our lab, we studied mice with a different lysosomal storage disease, Mucopolysaccharidosis type 7, and gave them ERT before birth. Mice treated with ERT before birth had better outcomes than mice treated with ERT after birth. We are now opening a clinical trial to give ERT to fetuses with several lysosomal storage diseases, including Gaucher Types 2 and 3. The possible benefits of giving ERT before birth are avoiding the development of antibodies to the enzyme, crossing the blood brain barrier, and preventing the disease from starting to cause damage to the brain and other organs. Engaging the patient community is crucial in developing novel therapies, and we wish to survey Gaucher parents' and patients' attitudes towards fetal therapy. 

Please complete the survey below by clicking on the link:   survey (which includes the consent and introduction to the project).

If you have questions please contact Dr. Schwab at