Pregnant patients with a diagnosed fetal lysosomal storage disease may have the opportunity to receive a promising treatment that could improve their babies’ health after birth. Learn about potential benefits – such as protecting against organ damage and allergic reactions – as well as the risks of delivering enzyme replacement in utero. Includes info on referrals and evaluations.
Refer to Fetal Treatment Center
license. Almost storage diseases are a group of disorders in which an important enzyme is missing in cells. Our bodies use enzymes to break down and reuse or get rid of waste materials and help ourselves to work properly. When one of these enzymes is missing, these materials can build up and sell throughout the body and cause damage. This damage can occur in various organs, including the liver, brain, heart and bones. For some license, almost storage diseases, the missing enzyme can be replaced with a synthetic enzyme, one made in a lab. This treatment is called enzyme replacement therapy or E. R. T. By replacing the enzyme through er T. The cells can now break down and get rid of waste material license Almost storage diseases can be diagnosed before or after birth. Enzyme replacements given after birth has some challenges that may not take care of all disease associated problems. That's why we have developed a new approach to start this treatment before birth challenges with current treatment include the following allergic reactions to the enzymes, meaning the patient develops antibodies against the enzymes. This immune response may either cause complications during infusions or make enzyme replacement therapy less effective. The enzyme cannot cross into the brain once the blood brain barrier is formed. And so giving the enzyme afterbirth can't help the effects of the disease on the brain damage to organs may have happened before birth and before the start of enzyme replacement therapy. In some cases, this damage may not be fixed at UCSF. We have developed a new approach that provides enzyme replacement therapy before birth. The goal of this approach is to improve the lives of people with license almost storage diseases. By giving the enzyme before birth. We hope to overcome the challenges of current care. The approach of providing enzyme replacement therapy before birth for people with specific license and more storage diseases is being studied in a Phase one clinical trial approved by the Food and Drug Administration or F. D. A. The primary purpose of this Phase one study is to determine the safety of enzyme replacement therapy for the fetus, the pregnant person and for the baby after birth deciding to take part in a clinical trial is a personal choice. If a person is offered the study and chooses not to enroll their access to care at any hospital will not be affected In this new treatment, we infuse the enzyme into the umbilical vein of the fetus. This same technique is routinely used to treat fetuses with other conditions such as fetal anemia and can be performed safely every few weeks. The umbilical vein is the vessel that carries blood from the placenta to the fetus. The infusion is done by placing a needle through the pregnant patient's abdomen and into the umbilical vein Using an ultrasound guide. The pregnant patient's skin would be numbed during the procedure. The risks from this procedure will be discussed later in this video. After birth. The baby will continue to receive enzyme replacement therapy. The baby will also be monitored closely for their first five years by the U. C. S. F. And collaborating study teams to understand long term outcomes of the fetal therapy only some license almost storage diseases will be included in this trial. The diseases we are including in the study are those that have an FDA approved enzyme replacement therapy available for treatment after birth. We have been approved to study eight license almost storage diseases. These conditions are listed here when considering new and unproven approaches to treatment. It is important to understand the potential risks and benefits the potential benefits of delivering enzyme replacement therapy before birth. Were tested in a laboratory and showed improvements with some of the issues with current therapies. Treatment before birth may improve outcomes because we may be able to slow or prevent build up of toxic materials in the cells and organs as early as possible by giving enzyme replacement therapy before birth, we hope to improve the survival of babies with license almost storage diseases and prevent the damage that occurs from the disease. Another possible benefit is that giving enzyme replacement therapy before birth could allow us to improve the lives and outcomes for babies by improving survival and preventing the effects on the brain during pregnancy, enzyme replacement therapy that is given after birth is not able to get into the brain. Giving enzyme replacement therapy before birth may allow the treatment to cross into the developing brain and may slow the progression of the disease. Another potential benefit is reducing the chance of allergic reactions to enzyme replacements after birth. Currently after infants and Children receive enzyme replacement multiple times, they may develop allergic reactions. These reactions make the treatment less effective when enzyme is given before birth, allergic reactions may be less likely. We think the unique immune system of the fetus may allow us to deliver enzymes without developing serious allergies. This technique may prevent allergic reactions when enzyme replacement is continued after birth. We call this immune tolerance. It is important to note that there are risks to any new therapy, particularly when given before birth. The main risk is from placing a needle in the umbilical vein of the fetus. The procedure has a less than 1% risk of pregnancy loss, preterm labor or infection in the pregnant patient. There may also be additional risks of any experimental treatment that we can't predict for this reason. We monitor the pregnant patient the fetus and baby after birth closely. In this clinical trial, we plan to treat pregnant patients carrying a fetus diagnosed with one of the specific license Almost storage diseases. Pregnant people will be diagnosed through standard testing during pregnancy, such as chorionic villus samples or amniocentesis. The pregnant person will be referred to UCSF by their local doctors or may contact us directly at that time. We will meet with each patient by a video visit to discuss the clinical trial in detail, including the possible risks and benefits of fetal enzyme replacement therapy. If the pregnant person would like to consider this therapy, they and a support person will travel to U. C. S F. For an in person visit and evaluation. This visit will allow the UCSF team to determine eligibility for participation in the clinical trial. During this visit, the pregnant person will be supported in making an informed decision about whether to continue the pregnancy, pursue standard care after delivery or take part in the clinical trial. If the pregnant person chooses to enroll in the trial, we will give enzyme replacement therapy to the fetus via an umbilical vein injection. This treatment will occur every 2-4 weeks until the 35th week of pregnancy. These infusions will be done at U. C. S. F. The delivery could be at UCSF or at the patient's local hospital after birth. The UCSF team will monitor the baby closely. Enzyme replacement therapy will need to continue along with all necessary standard medical care. We will follow the child with yearly visits until they are five years old. License. Almost storage diseases can be devastating for patients and their families. We hope that this clinical trial will bring us one step closer to finding a definitive cure. Our mission is to give these babies and someday babies with similar conditions a better life. Thank you for your attention. If you have any further questions about this study, please contact our team at fetal treatment center at UCSF dot e d u or 1 800 r x fetus. Thank you.
