Clinical Trials

We are currently performing two clinical trials of prenatal therapies that were tested in the MacKenzie lab. These are:

1. Prenatal Enzyme Replacement for Lysosomal Storage Diseases (PEARL Trial). (NCT04532047). After publishing preclinical data showing the safety and efficacy of IUERT in mice with MPS7, we obtained an IND to perform IUERT in fetuses with one of 8 different LSDs with FDA-approved postnatal ERTs. The report of the first patient treated on this protocol was recently published and we are continuing to enroll patients at UCSF. Visit the pearltrial.ucsf.edu website for patients.

2. In utero hematopoietic stem cell transplantation for alpha thalassemia major. (NCT02986698) We are testing the safety and efficacy of transplanting maternal-derived hematopoietic stem cells in fetuses with the most severe form of alpha thalassemia. We are also enrolling in a prospective patient registry to better understand the natural history of this condition with and without in utero transfusions. 

For more information about the trials or a patient referral, please contact [email protected].