Improved gene-editing delivery for brain and nerve diseases
Advanced Delivery Platforms for Base Editing In Vivo
['FUNDING_R01'] · UNIV OF MASSACHUSETTS MED SCH WORCESTER · NIH-11187007
Testing a new way to deliver precise gene edits into brain and nerve cells to help people with ALS and Batten disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF MASSACHUSETTS MED SCH WORCESTER (nih funded) |
| Locations | 1 site (WORCESTER, UNITED STATES) |
| Trial ID | NIH-11187007 on ClinicalTrials.gov |
What this research studies
Researchers are improving a compact gene-editing system that can be packaged into a single adeno-associated virus (AAV) for delivery to the central nervous system. They will modify an adenine base editor to increase on-target editing, reduce unwanted bystander changes, expand the range of targetable sites, and lower immune and toxicity risks. These modified editors will be tested in mouse models of ALS and Batten disease to measure how well and how safely they edit disease-linked genes. Findings will guide whether this delivery approach could move toward human testing.
Who could benefit from this research
Good fit: People with genetic forms of ALS or Batten disease whose specific mutations are correctable with an adenine base editor and who may be eligible for future early-phase clinical trials.
Not a fit: Patients whose conditions are non-genetic, whose mutations cannot be corrected by an adenine base editor, or those seeking immediate clinical treatment are unlikely to benefit from this preclinical work.
Why it matters
Potential benefit: If successful, this could enable safer, more precise one-time gene therapies for certain genetic CNS disorders like ALS and Batten disease.
How similar studies have performed: Related single-AAV base-editing approaches have shown proof-of-concept success in animal models, but applying them safely and effectively to human CNS diseases remains largely unproven.
Where this research is happening
WORCESTER, UNITED STATES
- UNIV OF MASSACHUSETTS MED SCH WORCESTER — WORCESTER, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: SONTHEIMER, ERIK J. — UNIV OF MASSACHUSETTS MED SCH WORCESTER
- Study coordinator: SONTHEIMER, ERIK J.
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: Amyotrophic Lateral Sclerosis Motor Neuron Disease, Batten Disease