Targeting UBE3A in Dup15q syndrome
Investigating UBE3A as a driver gene in Duplication 15q syndrome
['FUNDING_R01'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11298935
Researchers are looking at whether lowering too much UBE3A protein can reverse the brain and behavior changes that cause problems for people with Dup15q syndrome.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIV OF NORTH CAROLINA CHAPEL HILL (nih funded) |
| Locations | 1 site (CHAPEL HILL, UNITED STATES) |
| Trial ID | NIH-11298935 on ClinicalTrials.gov |
What this research studies
This project uses mouse models that carry extra copies of the Ube3a gene to mimic Dup15q syndrome. Researchers will raise and then genetically normalize Ube3a levels at different ages to find when changing UBE3A helps most. They will measure behavior, brain physiology, and other signs to see whether fixing UBE3A reverses disease features. The team will also develop and optimize ways (including antisense knockdown approaches) to safely lower UBE3A levels to guide future human therapies.
Who could benefit from this research
Good fit: Individuals with maternally derived duplications of chromosome 15q11-q13 (Dup15q syndrome), including children and adults, would be the relevant patient group for any future therapies.
Not a fit: People whose autism or neurological symptoms are caused by other genes or conditions, rather than 15q duplications and UBE3A overexpression, may not benefit from UBE3A-targeting approaches.
Why it matters
Potential benefit: If successful, this work could point to treatments that lower UBE3A and improve developmental, behavioral, and neurological problems in people with Dup15q syndrome.
How similar studies have performed: Previous animal studies and related antisense approaches have suggested UBE3A is a promising target, but direct reversal of Dup15q features in humans remains largely untested.
Where this research is happening
CHAPEL HILL, UNITED STATES
- UNIV OF NORTH CAROLINA CHAPEL HILL — CHAPEL HILL, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PHILPOT, BENJAMIN D — UNIV OF NORTH CAROLINA CHAPEL HILL
- Study coordinator: PHILPOT, BENJAMIN D
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: 15q+ syndrome, Autistic Disorder