Phase 1 Gaucher Disease Trial, Recruiting
Who may be able to join
AI generated eligibility summary. Written by an AI model from the official source data and checked on a sample basis. It can contain mistakes, so confirm anything important against the original source. How we use AI
Who might be able to join this trial:
- The pregnancy is between about 18 weeks and nearly 35 weeks along, and the baby is alive
- The unborn baby has been diagnosed with one of 8 specific rare storage diseases (called lysosomal storage disorders, or LSDs) through pregnancy testing such as amniocentesis, CVS, or similar procedures
- The mother is between 18 and 50 years old
- The mother is able to understand and sign a consent form and is able to follow the requirements of the study
Who may not be able to join:
- The unborn baby has a serious physical/structural abnormality in addition to the storage disease
- The unborn baby has another significant genetic condition (separate from the storage disease) that poses a serious health risk
- The mother has serious health conditions that would make a procedure on the baby unsafe, such as significant heart or lung disease, organ failure, confusion or altered awareness, a detached placenta, active early labor, or early water breaking — or if the procedure cannot be safely carried out due to the mother's body shape or the position of the placenta
- The mother needs strong blood-thinning medication within 24 hours before or after the treatment procedure
(Note: Fluid buildup around the baby — called hydrops fetalis — does NOT automatically disqualify participation, as the treatment may still be beneficial in that situation.)
Important: Always verify eligibility with the trial site directly before applying.
Based on publicly available eligibility criteria from ClinicalTrials.gov. Verify directly with the trial site before acting. This is not medical advice.
Contact this trial
Principal Investigator: Tippi MacKenzie, MD, University of California, San Francisco
Phone: 415-476-4086
Contact details sourced from ClinicalTrials.gov. Verify directly with the trial site before attending.
GP referral letter
Print a one-page summary to share with your doctor.
Trial details
Where this trial is recruiting
Primary endpoints
Number of participants with treatment-related adverse events as assessed by CTCAE v5.0.; Number of participants to receive the full initial, weight-based dose of enzyme replacement therapy through the fetal umbilical vein, and subsequent doses throughout the pregnancy.; Number of participants with the presence and levels of glycosaminoglycans (GAGs) in urine.; The number of participants with improvement or resolution of hydrops (if present).
Can't join this trial?
Data last synced from ClinicalTrials.gov: 28 July 2026. Trial status can change. Always verify current status directly with the trial site before making any decision.