If you are expecting a baby at risk for IOPD, UCSF has a clinical trial that may help. This trial starts treatment before birth.
UCSF Offers Pioneering Treatment for IOPD
Infantile-onset Pompe disease (IOPD) is a rare, inherited enzyme deficiency. Babies with this genetic disorder do not produce an enzyme needed to break down complex sugars in the body.
IOPD is a life-threatening condition. It affects the heart, muscles, and other vital organs. The PEARL Trial starts treatment before birth because damage to organs from IOPD starts before birth.
What is Enzyme Replacement Therapy (ERT) for IOPD?
ERT for IOPD replaces the missing enzyme with a medication called alglucosidase alfa. This medication is normally administered after birth to reduce the severity of the disease. How well this treatment works can be limited. Sometimes the body makes antibodies (proteins the body makes to protect it from germs or other substances) against ERT. This can limit how well ERT works.
UCSF has a strategy to make ERT more effective
UCSF has an FDA-approved clinical trial to treat fetuses with IOPD before birth. Treating before birth may improve outcomes and survival rates. The immune system before birth is less likely to make antibodies against the enzyme. By giving ERT before birth we may be able to prevent antibody creation long-term (also known as tolerance). UCSF hopes that prenatal ERT will prevent or reduce the damage that starts in pregnancy. Learn more about this groundbreaking work at UCSF News.
Our new clinical trial could be a significant step towards improving the lives of those with IOPD.
Financial support for participant expenses
The PEARL Trial supports:
- Travel costs for participant and companion (transportation, housing, and food costs)
- Study-related expenses
Connect with the trial team
A member of the trial team would be happy to speak with you. Please complete our contact form. This conversation will help you consider whether participation would be right for you.
Why UCSF and Dr. Tippi MacKenzie?
The University of California, San Francisco (UCSF) is a leader in maternal-fetal precision medicine with a history of innovation in fetal therapy. Dr. Tippi MacKenzie, the lead physician, is a respected expert in the field. For two decades she has been working to improve outcomes for babies with genetic disorders. Dr. Tippi MacKenzie trained at Stanford University, Harvard Brigham and Women's Hospital, and the Children's Hospital of Philadelphia. Choosing UCSF means trusting a team committed to compassionate, innovative care.
Frequently Asked Questions
What is IOPD?
How can IOPD impact babies?
Is there treatment for IOPD?
What is Prenatal ERT for IOPD?
What makes this clinical trial different?
What is a clinical trial?
Where can I get more information?
This text was written and approved by Dr. Tippi MacKenzie, a pediatric and fetal surgeon, and Dr. Paul Harmatz, a pediatrician and metabolic disease expert, at the UCSF Benioff Children's Hospitals. Our approach was approved for use in a clinical trial by the US FDA in 2020, and our study is governed by UCSF's Institutional Review Board to ensure ethical and equitable treatment of participants.
