Pompe Disease clinical trials at UCSF
5 in progress, 4 open to eligible people
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
ZIP Study-OL Study of Safety, PK, Efficacy, PD, Immunogenicity of ATB200/AT2221 in Pediatrics Aged 0 to < 18 y.o. w/LOPD
open to eligible people ages 0-17
This is a Phase 3, open-label, multicenter study to evaluate the safety, PK, efficacy, PD, and immunogenicity of Cipaglucosidase Alfa/Miglustat treatment in enzyme replacement therapy (ERT)-experienced and ERT-naïve pediatric subjects with Pompe disease, aged 0 to < 18 years
Oakland, California and other locations
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 Tippi Mackenzie.
Last updated: