How puberty and sex hormones affect brain development in families with inherited early-onset Alzheimer's
Examining sex-differences in puberty and brain development in carriers of autosomal dominant Alzheimer's disease
['FUNDING_U01'] · MASSACHUSETTS GENERAL HOSPITAL · NIH-11194287
This project looks at how puberty and sex hormones relate to early brain and thinking changes in people who carry a gene for inherited Alzheimer's disease.
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-11194287 on ClinicalTrials.gov |
What this research studies
I would be asked to join if I come from a family with the PSEN1 E280A mutation that causes inherited early-onset Alzheimer's; researchers will compare mutation carriers and non-carrier relatives. They will collect information about puberty, measure sex hormone-related factors, test thinking and memory (including tools like the WISC), and take brain scans to study microstructure. The work focuses on children and adolescents as well as younger adults to find the earliest sex-linked brain changes. Findings aim to link puberty-related biology to later Alzheimer risk so future prevention can target these early changes.
Who could benefit from this research
Good fit: Ideal participants are members of the PSEN1 E280A kindred, including children, adolescents, and younger adults who are known mutation carriers or unaffected family relatives willing to take part in testing and scans.
Not a fit: People without the ADAD mutation or without a family link to the PSEN1 E280A kindred are unlikely to get direct benefit from this specific project.
Why it matters
Potential benefit: If successful, this could reveal early hormone-linked brain changes that help guide earlier detection and prevention efforts for people at very high genetic risk.
How similar studies have performed: Previous work in this same kindred found early sex differences in working memory in children, but applying puberty-focused hormone measures and brain microstructure imaging is a newer approach.
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