Treating lysosomal storage diseases before birth with enzyme therapy
Phase 1 Study of In Utero Enzyme Replacement Therapy for the Treatment of Lysosomal Storage Diseases
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · NIH-11095794
This study is exploring a new way to treat lysosomal storage diseases by giving a special enzyme therapy to babies while they are still in the womb, hoping to help them have better health and fewer problems from these conditions.
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-11095794 on ClinicalTrials.gov |
What this research studies
This research investigates a novel approach to treat lysosomal storage diseases (LSDs) by administering enzyme replacement therapy (ERT) in utero. The study aims to address the limitations of current ERT, which often cannot effectively reach the brain or prevent disease progression before birth. By infusing the therapy directly into the fetus, the researchers hope to improve survival rates and reduce the severity of these diseases. The trial will involve 10 maternal-fetal pairs, focusing on various types of LSDs to evaluate the safety and efficacy of this early intervention.
Who could benefit from this research
Good fit: Ideal candidates for this research are pregnant women carrying fetuses diagnosed with specific lysosomal storage diseases.
Not a fit: Patients who are not pregnant or whose conditions do not fall under the specified lysosomal storage diseases may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could significantly improve outcomes for infants with lysosomal storage diseases by addressing the condition before birth.
How similar studies have performed: Previous research in animal models has shown promising results for in utero enzyme replacement therapy, indicating potential for success in human trials.
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