Phase 1 in utero enzyme replacement for lysosomal storage diseases
Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11312671
This trial gives enzyme therapy before birth to babies with certain severe lysosomal storage diseases to try to prevent early organ and brain damage.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA, SAN FRANCISCO (nih funded) |
| Locations | 1 site (SAN FRANCISCO, UNITED STATES) |
| Trial ID | NIH-11312671 on ClinicalTrials.gov |
What this research studies
If your unborn baby has a prenatal diagnosis of one of several serious lysosomal storage diseases, this trial will deliver enzyme replacement directly to the fetus before birth and continue standard enzyme therapy after delivery, while closely monitoring safety and organ and brain function. The single-site, non-randomized trial at UCSF plans to enroll up to 10 mother–fetus pairs across eight specific disorders (including several MPS types, infantile-onset Pompe, neuronopathic Gaucher, and Wolman disease). The approach is based on animal data showing prenatal delivery can reach the brain and reduce immune reactions, and participants will receive detailed prenatal, delivery, and postnatal follow-up. The team will track survival, biochemical markers, organ function, neurologic signs, and antibody responses to the enzyme.
Who could benefit from this research
Good fit: Pregnant people carrying a fetus diagnosed prenatally with one of the included infantile or neuronopathic lysosomal storage diseases who meet the trial's medical and gestational eligibility criteria are the intended candidates.
Not a fit: People with late-onset or mild forms of these diseases, those diagnosed only after birth, or those who cannot meet the trial's gestational or safety requirements (or travel to the site) may not benefit or be eligible.
Why it matters
Potential benefit: If successful, this approach could reduce or prevent life-threatening organ and brain damage, improve early survival, and lower immune reactions to later enzyme therapy.
How similar studies have performed: Preclinical mouse work (MPS7) showed improved survival, brain delivery, and immune tolerance after in utero enzyme replacement, but this is the first-in-human trial so clinical benefit in people is unproven.
Where this research is happening
SAN FRANCISCO, UNITED STATES
- UNIVERSITY OF CALIFORNIA, SAN FRANCISCO — SAN FRANCISCO, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MACKENZIE, TIPPI — UNIVERSITY OF CALIFORNIA, SAN FRANCISCO
- Study coordinator: MACKENZIE, TIPPI
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.
Conditions: Acid Maltase Deficiency Disease