How puberty and sex shape brain development in people with inherited early-onset Alzheimer's risk
Examining sex-differences in puberty and brain development in carriers of autosomal dominant Alzheimer's disease
['FUNDING_U01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11400122
This project looks at how puberty and sex affect brain development and thinking in young people who carry a gene for inherited early-onset Alzheimer's.
Quick facts
| Phase | ['FUNDING_U01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | MASSACHUSETTS GENERAL HOSPITAL (nih funded) |
| Locations | 1 site (BOSTON, UNITED STATES) |
| Trial ID | NIH-11400122 on ClinicalTrials.gov |
What this research studies
You would join relatives from a large family known to carry the PSEN1 E280A mutation so researchers can follow brain and cognitive changes through puberty. The team compares mutation carriers and non-carrier relatives using cognitive testing, puberty and reproductive-history interviews, hormone/sample collection, and brain MRI measures of microstructure. Visits occur at Massachusetts General Hospital and/or partnering sites and may be repeated over time to track early differences. The aim is to spot sex-dependent brain changes many years before dementia symptoms appear.
Who could benefit from this research
Good fit: Ideal candidates are members of families with autosomal dominant Alzheimer's due to the PSEN1 E280A mutation, including children, adolescents, and young adults who are carriers or non-carrier relatives.
Not a fit: People without a family history of autosomal dominant Alzheimer's or those whose Alzheimer's risk is only the common late-onset form may not directly benefit from this specific project.
Why it matters
Potential benefit: If successful, this work could reveal how sex and puberty influence the earliest brain changes that lead to Alzheimer's, helping to time or personalize future prevention strategies.
How similar studies have performed: Prior cognitive and imaging work in this PSEN1 kindred has shown very early brain and cognitive differences, but focusing on puberty and sex effects is a novel extension.
Where this research is happening
BOSTON, UNITED STATES
- MASSACHUSETTS GENERAL HOSPITAL — BOSTON, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: QUIROZ, YAKEEL T. — MASSACHUSETTS GENERAL HOSPITAL
- Study coordinator: QUIROZ, YAKEEL T.
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, Alzheimer's Disease, Alzheimer's disease risk