If you are expecting a baby at risk for MPS 6, UCSF has a clinical trial that may help. This trial starts treatment before birth.
UCSF Offers Pioneering Treatment for MPS 6
Mucopolysaccharidosis (MPS) type 6, also known as Maroteaux-Lamy syndrome, 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.
MPS 6 is a life-threatening condition. It affects the bones, connective tissue, liver, spleen, lungs, heart, eyes, ears, and other vital organs. The PEARL Trial starts treatment before birth because damage to organs from MPS 6 starts before birth.
What is Enzyme Replacement Therapy (ERT) for MPS 6?
ERT for MPS 6 replaces the missing enzyme with a medication called galsulfase. 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 MPS 6 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 MPS 6.
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 MPS 6?
MPS 6 is a rare, inherited enzyme deficiency. It is caused by mutations in a gene called ARSB. Babies with MPS 6 do not produce an enzyme called arylsulfatase-B. Arylsulfatase-B is an important enzyme that breaks down complex sugars in the body. Without arylsulfatase-B or enzyme replacement therapy (ERT), toxic levels of sugars build up in cells. This build-up leads to severe organ damage that starts before birth. MPS 6 is a type of genetic disorder called a lysosomal storage disease (LSD).
How can MPS 6 impact babies?
MPS 6 affects many parts of the body, including
- Bones
- Connective tissue
- Liver
- Spleen
- Lungs
- Heart
- Eyes
- Ears
MPS 6 causes:
- Abnormal bone growth
- Pain and loss of movement in joints
- Decreased lung function
- Hearing and vision impairment
- Increased pressure in the skull resulting in headaches and vision loss
- Sleep apnea
- Other severe health issues
Is there treatment for MPS 6?
Galsulfase is an enzyme replacement therapy (ERT) to replace arylsulfatase-B, which is not produced by people with MPS 6. It is FDA-approved for babies, children, and adults with MPS 6, who receive ERT through intravenous infusion every week for life.
What is Prenatal ERT for MPS 6?
Prenatal ERT is currently available through a clinical trial. It is a treatment given before birth to prevent or lessen the impact of MPS 6. It uses the same medication approved for babies, children, and adults with MPS 6.
What makes this clinical trial different?
The PEARL Trial is the first to give Prenatal ERT for MPS 6. 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 MPS 6:
- Is safe for the mother and fetus when given prenatally
- Improves the health of 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.