Investigating gene therapy for Prader-Willi syndrome
Official title: Prader-Willi syndrome (PWS) gene-domain and AAV miniaturization for gene therapy
Funded at University of Pittsburgh at Pittsburgh · NIH-10771280 · Data updated 2026-11-12
This study is exploring a new gene therapy for Prader-Willi syndrome that aims to replace missing genes using a tiny virus, which could help improve treatments for people living with this condition.
Quick facts
| Grant type | R21 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pittsburgh at Pittsburgh NIH-funded |
| Lab location | 1 site (Pittsburgh, United States) |
| Project start | February 1, 2023 |
| Project end | July 31, 2025 |
| Funding year | 2024 |
| Award (this year) | $196,579 |
| NIH project number | 5R21HD108695-02 |
| Project ID | NIH-10771280 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals diagnosed with Prader-Willi syndrome who may benefit from advanced genetic therapies.
✕Less likely to help
Patients with other genetic disorders or those without a diagnosis of Prader-Willi syndrome may not receive any benefit from this research.
What this research studies
This research focuses on developing a new gene therapy approach for Prader-Willi syndrome (PWS), a complex genetic disorder. The project aims to miniaturize key genetic elements into a single adeno-associated virus (AAV) vector to potentially replace missing or silent genes associated with PWS. By testing the expression of these miniaturized genes in cells, the researchers hope to better understand how gene loss affects the symptoms of PWS. This innovative method could lead to more effective treatments for the condition.
Why it matters
Potential benefit: If successful, this research could provide a novel gene therapy that significantly improves the quality of life for individuals with Prader-Willi syndrome.
How similar studies have gone: While gene therapy for genetic disorders is a growing field, this specific approach for Prader-Willi syndrome is novel and has not been extensively tested in prior studies.
Where this research is happening
-
University of Pittsburgh at Pittsburgh
Pittsburgh, United States Active
Researchers
- Principal investigator: Nicholls, Robert D — University of Pittsburgh at Pittsburgh
- Study coordinator: Nicholls, Robert D
Related research
Other NIH-funded projects on the same topics.
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Understanding the genetic causes of Prader-Willi syndrome
This study is looking at how certain genes related to Prader-Willi syndrome work, especially a group called SNORD116, to see if turning on the right genes can help improve brain function and find new ways to treat the condition.
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Group therapy to help teens with Prader-Willi regulate emotions
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CSTI-500 in Prader-Willi Syndrome: a dose-escalation study for safety and efficacy
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This study is testing if a weight loss medication called Tirzepatide can help young adults with Prader-Willi Syndrome and hypothalamic obesity lose weight and improve their health.
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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.