Pompe Disease clinical trials at UCSF
3 in progress, 2 open to eligible people
Pompe disease is a genetic disorder that causes muscle weakness. UCSF is checking if it is safe to treat babies with enzymes before they are born. UCSF is also collecting medical records from people with the disease worldwide to learn more about it.
In Utero Enzyme Replacement Therapy for Lysosomal Storage Diseases
open to eligible females ages 18-50
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
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 Tippi Mackenzie.
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