Pompe Disease clinical trials at UCSF

4 in progress, 3 open to eligible people

Pompe disease is a rare genetic disorder that affects muscle and nerve cells. UCSF is studying the safety of enzyme replacement therapy given to unborn babies. Another study collects data worldwide from people with Pompe disease to understand its progression. UCSF also manages a registry for various lysosomal storage diseases.

Showing trials for

  • PEARL (PrEnAtal Enzyme Replacement Therapy for Lysosomal Storage Disorders)

    open to eligible females ages 18-50

    For detailed information, please view our study website: https://pearltrial.ucsf.edu/ The investigators aims to determine the the maternal and fetal safety and feasibility of in utero fetal enzyme replacement therapy in fetuses with Lysosomal Storage Diseases.

    San Francisco, California

  • Pompe Disease Registry Protocol

    open to all eligible people

    The Pompe Registry is a global, multicenter, international, longitudinal, observational, and voluntary program for patients with Pompe disease, designed to track the disease's natural history and outcomes in patients, both treated and not. Data from the Registry are also used to fulfill various global regulatory commitments, to support product development/reimbursement, and for other research and non-research related purposes. The objectives of the Registry are: - To enhance understanding of the variability, progression, identification, and natural history of Pompe disease, with the ultimate goal of better guiding and assessing therapeutic intervention. - To assist the Pompe medical community with the development of recommendations for monitoring patients, and to provide reports on patient outcomes, to optimize patient care. - To characterize the Pompe disease population. - To evaluate the long-term effectiveness of alglucosidase alfa.

    Oakland, California and other locations

  • Registry of Patients Diagnosed With Lysosomal Storage Diseases

    open to eligible people ages up to 64 years

    This is an international prospective and retrospective registry of patients with Lysosomal Storage Diseases (LSDs) to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with LSDs.

    San Francisco, California

  • ATB200/AT2221 for the Treatment of IOPD

    Sorry, not accepting new patients

    This is an expanded access program (EAP) for eligible participants designed to provide access to ATB200/AT2221.

    Oakland, California and other locations

Our lead scientists for Pompe Disease research studies include .

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