University of California – San Francisco (UCSF) is excited to announce the rebranding of their phase 1 clinical trail of In Utero EnzymeA protein that helps the body carry out chemical reactions. More Replacement Therapy as the PEARL Trial–PrEnAtan enzyme Rreplacement for Llysosomal storage diseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them... More.
“We have rebranded our promising phase 1 clinical trialA research study that tests new treatments or approaches in people. More of In Utero EnzymeA protein that helps the body carry out chemical reactions. More Replacement Therapy as the PEARL Trial—PrEnAtal enzymeA protein that helps the body carry out chemical reactions. More Replacement for Lysosomal storage diseases. We have created a website for the PEARL Trial, which is intended for a lay audience seeking information about our study and specific lysosomal storage diseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them... More in pregnancy. Please consider visiting and sharing the new PEARL Trial website: https://pearltrial.ucsf.edu. The aim of the PEARL Trial is to establish the safety and efficacy of prenatal ERT for lysosomal storage diseasesA group of diseases in which substances build up inside lysosomes because the body cannot break them... More, including:· Mucopolysaccharidoses (MPS) 1, 2, 4a, 6, 7· Infantile-onset Pompe diseaseA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More (IOPDA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More)· Neuronopathic Gaucher disease (types 2 and 3)· Wolman disease
We have seen promising results with this approach—the first patient who was treated with in utero enzymeA protein that helps the body carry out chemical reactions. More replacement therapy had infantile-onset Pompe diseaseA severe form of Pompe disease that begins in infancy and often affects the heart and muscles. More and we saw a clear benefit of the prenatal therapy on her motor function, as we published in Cohen et al, NEJM 2022. We have treated several additional patients at UCSF with no apparent safety concerns and have presented promising improvements in biomarkersA measurable sign in the body that helps track disease progression or treatment response. More at national conferences, including WORLD 2024.
Like other rare disease clinical trialsA research study that tests new treatments or approaches in people. More, reaching eligible patients is challenging. Some participants will learn about the PEARL Trial through online searches. However, direct referral by clinicians and others in the lysosomal disease community is critical. Here are two ways you can help:1. If you care for families who have previously experienced an affected pregnancy, please consider sharing this information with them so that they are aware of this option for a future pregnancy.2. Forward this message to individuals who care for patients, diagnose, or study lysosomal diseases.
To refer a patient to the PEARL Trial, please contact our clinical trialA research study that tests new treatments or approaches in people. More manager, Emma.Canepa@ucsf.edu.
We are also keeping a registry of patients who are prenatally diagnosed with the above conditions so please contact us if you are aware of families who may consider participating.”
-Tippi C. MacKenzie, MD and Paul Harmatz, MD