Understanding how changes in a protein affect Alzheimer's disease progression
Official title: Identifying variations in gamma-secretase function that are critical determinants of clinical and biomarker progression of Autosomal Dominant Alzheimer's disease: From mechanism to clinical trials
Funded at Massachusetts General Hospital · NIH-10982464 · Data updated 2026-11-12
This study is looking at how different genetic changes in a protein related to Alzheimer's disease might affect symptoms and brain markers, and it’s inviting patients with certain genetic backgrounds to help by sharing their experiences and test results to find new ways to treat the condition.
Quick facts
| Grant type | Career grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Massachusetts General Hospital NIH-funded |
| Lab location | 1 site (Boston, United States) |
| Project start | December 1, 2023 |
| Project end | November 30, 2028 |
| Funding year | 2025 |
| Award (this year) | $129,166 |
| NIH project number | 5K01AG084816-02 |
| Project ID | NIH-10982464 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are individuals with autosomal dominant Alzheimer's disease, particularly those carrying specific Presenilin-1 variants.
✕Less likely to help
Patients with sporadic Alzheimer's disease who do not have genetic variants linked to autosomal dominant Alzheimer's may not benefit from this research.
What this research studies
This research investigates the role of gamma-secretase, a protein complex involved in the production of amyloid-beta, which is linked to Alzheimer's disease. By examining over 250 genetic variants of the Presenilin-1 protein, the study aims to understand how these variations influence the progression of Alzheimer's symptoms and biomarkers. The research will utilize cell-based models to assess the effects of different gamma-secretase modulators on these variants, potentially leading to new therapeutic strategies. Patients with specific genetic backgrounds may contribute to this research by providing cognitive and biomarker data.
Why it matters
Potential benefit: If successful, this research could lead to novel therapies that slow down or alter the progression of Alzheimer's disease.
How similar studies have gone: Previous research has shown promise in targeting gamma-secretase modulation for Alzheimer's treatment, indicating a potential for success in this approach.
Where this research is happening
-
Massachusetts General Hospital
Boston, United States Active
Researchers
- Principal investigator: Schultz, Stephanie — Massachusetts General Hospital
- Study coordinator: Schultz, Stephanie
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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.