Improving health in individuals with Down syndrome by restoring protein balance
Restoration of proteostasis to address co-occurring conditions in Down Syndrome
This study is looking at how a special medicine called 4-phenyl butyrate can help improve health problems like sleep issues, metabolism, and memory decline in people with Down syndrome as they get older, with the hope of making their lives better.
Quick facts
| Grant type | NIH-funded research |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Pennsylvania NIH-funded |
| Lab location | 1 site (Philadelphia, United States) |
| Project ID | NIH-10518555 on NIH RePORTER |
What this research studies
This research focuses on individuals with Down syndrome (DS) who face significant health challenges as they age, particularly an increased risk of sleep disorders, metabolic issues, and cognitive decline similar to early-onset Alzheimer's disease. The study investigates the role of protein folding stress in these conditions and aims to restore proteostasis using a chemical chaperone called 4-phenyl butyrate (PBA), which is already FDA-approved for other uses. By addressing the underlying biological mechanisms, the research seeks to improve the overall quality of life for individuals with DS by alleviating these co-occurring health issues.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down syndrome, particularly those experiencing age-related health challenges.
Not a fit: Patients without Down syndrome or those who do not exhibit co-occurring conditions related to aging may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved health outcomes and quality of life for individuals with Down syndrome by mitigating the effects of sleep, metabolic, and cognitive disorders.
How similar studies have performed: While the approach of restoring proteostasis is innovative, preliminary data suggest that similar strategies have shown promise in addressing related health issues in other populations.
Where this research is happening
Philadelphia, United States
- University of Pennsylvania — Philadelphia, United States (Active)
Researchers
- Principal investigator: Naidoo, Nirmala Nirinjini — University of Pennsylvania
- Study coordinator: Naidoo, Nirmala Nirinjini
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.