Understanding Christianson Syndrome and Related Brain Disorders
Pathogenic Mechanisms in Christianson Syndrome and NHE6-Related Disorders
['FUNDING_R01'] · BROWN UNIVERSITY · NIH-11134744
This project explores genetic changes that cause Christianson Syndrome and similar brain disorders, aiming to understand how they lead to conditions like intellectual disability and may connect to Alzheimer's disease.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | BROWN UNIVERSITY (nih funded) |
| Locations | 1 site (PROVIDENCE, UNITED STATES) |
| Trial ID | NIH-11134744 on ClinicalTrials.gov |
What this research studies
This research focuses on genetic conditions caused by changes in a gene called NHE6, which are linked to problems with how cells process waste. We are looking at three specific conditions: Christianson Syndrome, which causes severe intellectual disability in males; a related syndrome affecting females; and non-syndromic intellectual disability or autism in males. Our team uses special mouse models and human stem cells to uncover exactly how the loss of NHE6 affects brain cells. We also want to see if these mechanisms are similar to those found in Alzheimer's disease and other related dementias.
Who could benefit from this research
Good fit: Patients with Christianson Syndrome, Female-specific NHE6 Mutation Carrier Syndrome, or Non-Syndromic ID/Autism, as well as their families, are the focus of this research.
Not a fit: Patients whose conditions are not related to NHE6 gene mutations or endolysosomal dysfunction may not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to new ways to understand and potentially treat Christianson Syndrome, related intellectual disabilities, and offer insights into Alzheimer's disease.
How similar studies have performed: This is a renewal of an ongoing grant, indicating prior success and continued progress in defining the mechanisms of NHE6-related diseases.
Where this research is happening
PROVIDENCE, UNITED STATES
- BROWN UNIVERSITY — PROVIDENCE, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MORROW, ERIC M — BROWN UNIVERSITY
- Study coordinator: MORROW, ERIC M
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