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?
Gaucher disease types 2 and 3 are rare, inherited enzyme deficiencies. They are caused by mutations in a gene called GBA. Babies with Gaucher disease types 2 and 3 do not produce an enzyme called glucocerebrosidase. Glucocerebrosidase is needed to break down fatty substances (called lipids) in the body. Without glucocerebrosidase or an enzyme replacement therapy (ERT), toxic levels of lipids build up in cells. This build-up leads to severe organ damage that starts before birth. Gaucher disease types 2 and 3 are both a type of genetic disorder called lysosomal storage diseases (LSDs).
How can Gaucher disease types 2 and 3 impact babies?
Gaucher disease causes glucocerebroside to build up in cells, which leads to organ damage. Gaucher disease types 2 and 3 affect many organs, including the:
- Central nervous system
- Liver
- Spleen
- Lungs
- Bones
Gaucher disease types 2 and 3 causes:
- Seizures
- Developmental delay
- Enlarged liver and spleen
- Lung disease
- Forward curvature of the spine
- Choking and swallowing difficulties
- Decreased levels of blood cell counts
- Pauses in breathing in Gaucher type 2 (apnea)
Is there treatment for Gaucher disease types 2 and 3?
Imiglucerase is an enzyme replacement therapy (ERT) to replace glucocerebrosidase, which is not produced by people with Gaucher disease types 2 and 3. It is FDA-approved for babies, children, and adults with Gaucher disease types 2 and 3, who receive ERT through intravenous infusion, which ranges from 3 times per week to once every 2 weeks, depending on severity.
What is Prenatal ERT for Gaucher types 2 and 3?
Prenatal ERT is currently available through a clinical trial. It is a treatment given before birth to prevent or lessen the impact of Gaucher disease types 2 and 3. It uses the same medication approved for babies, children, and adults with Gaucher disease types 2 and 3.
What makes this clinical trial different?
The PEARL Trial is the first to give Prenatal ERT for Gaucher disease types 2 and 3. This means that a fetus receives ERT before birth. The goal of this new strategy is to avoid the drawbacks of waiting until after birth for treatment.
What is a clinical trial?
A clinical trial is research that involves a treatment and people. Clinical trials help researchers answer questions like:
- Is a new treatment safe?
- Does the new treatment do what it is supposed to do?
- Is the new treatment better than a current treatment?
- Which patients benefit the most from the new treatment?
In the PEARL Trial, we are testing to see if Prenatal ERT for Gaucher disease types 2 and 3:
- Is safe for the mother and fetus when given prenatally
- Improves the health of the children who start ERT before birth compared to children who start ERT after birth
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.