Developing a small molecule treatment for Angelman syndrome
Small Molecule Therapeutic Discovery for Angelman Syndrome
['FUNDING_R01'] · UNIV OF NORTH CAROLINA CHAPEL HILL · NIH-11123115
This study is looking at a new treatment for Angelman syndrome that could help improve the lives of those affected by it, by testing a special molecule in mice to see how it affects their behavior and brain function before moving on to trials with people.
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-11123115 on ClinicalTrials.gov |
What this research studies
This research focuses on Angelman syndrome, a severe neurodevelopmental disorder caused by the deletion of a specific gene. The team has discovered a small molecule that can unsilence the paternal allele of the UBE3A gene in neurons, which is crucial for treating this condition. The approach involves testing this molecule in model mice to observe its effects on behavior and brain function, with the goal of advancing to clinical trials for human patients. The research aims to establish a non-invasive treatment that could significantly improve the lives of those affected by Angelman syndrome.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Angelman syndrome, particularly those with the genetic profile related to UBE3A.
Not a fit: Patients with Angelman syndrome who do not have the specific genetic deletions or mutations targeted by this research may not benefit.
Why it matters
Potential benefit: If successful, this research could lead to a groundbreaking treatment that reverses the symptoms of Angelman syndrome, providing lifelong benefits to patients.
How similar studies have performed: While the approach of using small molecules to unsilence genes is innovative, similar strategies have shown promise in other genetic disorders, indicating potential for success.
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: Angelman Syndrome, autism spectral disorder, autism spectrum disorder, Autistic Disorder