Gene‑editing approaches for Mucopolysaccharidosis Type I (Hurler syndrome)
PROJECT 3: MUCOPOLYSACCHARIDOSIS TYPE 1 (MPS1)
['FUNDING_OTHER'] · CHILDREN'S HOSP OF PHILADELPHIA · NIH-11145252
This project tests AAV-delivered adenine base editors to correct the common W402X mutation in people with MPS I after birth and explores prenatal treatment for affected pregnancies.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | CHILDREN'S HOSP OF PHILADELPHIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11145252 on ClinicalTrials.gov |
What this research studies
Researchers plan to use AAV vectors to deliver adenine base editors that can change the specific W402X DNA error responsible for severe MPS I in about 40% of patients. The team aims to develop a postnatal treatment pathway that could support an IND and a first clinical trial, while also running preclinical prenatal studies that could enable future in‑utero interventions. Work will include safety, biodistribution, and biochemical effectiveness testing in laboratory and animal models and human‑relevant systems. The effort focuses on preventing or reducing the early organ damage that leads to life‑shortening complications in untreated children.
Who could benefit from this research
Good fit: Ideal candidates are people diagnosed with MPS I who carry the W402X (G>A) mutation—especially those homozygous for W402X—and pregnant people carrying a fetus confirmed to have that mutation for the prenatal research.
Not a fit: Patients who do not carry the W402X mutation or those with advanced, irreversible organ damage may not benefit from this specific base‑editing approach.
Why it matters
Potential benefit: If successful, the approach could permanently correct the W402X mutation and prevent the severe, early-life organ damage that causes early death in many people with MPS I.
How similar studies have performed: Base editing delivered by AAV has shown promising preclinical results in other genetic disorders, but clinical application of this specific approach is largely novel and not yet proven in people.
Where this research is happening
PHILADELPHIA, UNITED STATES
- CHILDREN'S HOSP OF PHILADELPHIA — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: DAVIDSON, BEVERLY L. — CHILDREN'S HOSP OF PHILADELPHIA
- Study coordinator: DAVIDSON, BEVERLY L.
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.