Restoring protein balance to improve sleep, metabolism, and memory in Down syndrome
Restoration of proteostasis to address co-occurring conditions in Down Syndrome
['FUNDING_R01'] · UNIVERSITY OF PENNSYLVANIA · NIH-11297676
Researchers are trying a safe drug called 4-phenylbutyrate to help people with Down syndrome have better sleep, healthier metabolism, and clearer thinking by fixing how cells handle proteins.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PENNSYLVANIA (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-11297676 on ClinicalTrials.gov |
What this research studies
This project focuses on people with Down syndrome who often have sleep, metabolic, and memory problems as they age. Scientists plan to use the drug 4-phenylbutyrate (PBA), which is already approved for another condition, to reduce stress on cellular protein-folding systems. The work combines lab studies in mice and analyses of human samples, and includes measures of sleep, metabolic health, and cognitive function to see if those areas improve. The goal is to restore normal protein handling in cells (proteostasis) so multiple co-occurring problems may be eased.
Who could benefit from this research
Good fit: Ideal candidates would be individuals with Down syndrome, especially those experiencing sleep disturbances, metabolic issues, or early changes in thinking and memory.
Not a fit: People without Down syndrome, or those with unrelated causes of cognitive or metabolic problems or who cannot take PBA for medical reasons, are unlikely to benefit from this work.
Why it matters
Potential benefit: If successful, this approach could improve sleep and metabolic health and slow memory decline for people with Down syndrome.
How similar studies have performed: Animal studies and some human data support the idea that reducing protein-folding stress can help, and PBA has prior clinical use, but applying it to Down syndrome-related sleep, metabolic, and cognitive problems is a relatively new approach.
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.
Conditions: Alzheimer disease dementia, Alzheimer syndrome