If you are expecting a baby at risk for Gaucher disease types 2 and 3, UCSF has a clinical trial that may help. This trial starts treatment before birth.
UCSF Offers Pioneering Treatment for Gaucher disease types 2 and 3
Gaucher disease types 2 and 3 are rare, inherited enzyme deficiencies. Babies with this genetic disorder do not produce an enzyme needed to break down fatty substances (called lipids) in the body.
Gaucher types 2 and 3 are life-threatening conditions affecting the central nervous system, liver, spleen, lungs, bones, and other vital organs. Because the brain is affected, types 2 and 3 are also known as neuronopathic Gaucher disease. The PEARL Trial starts treatment before birth because damage to organs from Gaucher types 2 and 3 starts before birth.
What is Enzyme Replacement Therapy (ERT) for Gaucher disease types 2 and 3?
ERT for Gaucher disease types 2 and 3 replaces the missing enzyme with a medication called imiglucerase. 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 the ERT. This can limit how well ERT works. Additionally, the medication cannot cross the blood-brain barrier (the protective filter that controls what materials are allowed to enter the brain) to reach the brain where it is needed.
UCSF has a strategy to make ERT more effective.
UCSF has an FDA-approved clinical trial to treat fetuses with Gaucher disease types 2 and 3 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). Prenatal treatment might also allow some of the enzyme to reach and treat the fetus's brain. 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 Gaucher types 2 and 3.
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 are Gaucher disease types 2 and 3?
How can Gaucher disease types 2 and 3 impact babies?
Is there treatment for Gaucher disease types 2 and 3?
What is Prenatal ERT for Gaucher types 2 and 3?
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.
