Understanding optic nerve issues in people with Down syndrome
Investigating the Mechanism of Optic Nerve disorders associated with Down Syndrome
['FUNDING_R01'] · UNIVERSITY OF ALABAMA AT BIRMINGHAM · NIH-11074234
This study is looking at why many people with Down syndrome have vision problems caused by a condition called optic nerve hypoplasia, and it hopes to find out if adding a certain fatty acid to their diet could help improve their eyesight.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF ALABAMA AT BIRMINGHAM (nih funded) |
| Locations | 1 site (BIRMINGHAM, UNITED STATES) |
| Trial ID | NIH-11074234 on ClinicalTrials.gov |
What this research studies
This research investigates the high prevalence of optic nerve hypoplasia (ONH) in individuals with Down syndrome (DS), which leads to significant vision impairment. By using a mouse model with a modified CASK gene, the study aims to understand the underlying mechanisms of ONH and its connection to fatty acid metabolism. The researchers will explore how a deficiency in a specific fatty acid, arachidonic acid, affects the optic nerve and contributes to visual problems. The ultimate goal is to determine if dietary supplementation with arachidonic acid could improve outcomes for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals with Down syndrome who are experiencing vision problems related to optic nerve hypoplasia.
Not a fit: Patients without Down syndrome or those not experiencing optic nerve issues may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new dietary interventions that improve vision and quality of life for individuals with Down syndrome.
How similar studies have performed: While the specific approach of dietary arachidonic acid supplementation is novel, similar research has shown promising results in understanding and addressing optic nerve disorders.
Where this research is happening
BIRMINGHAM, UNITED STATES
- UNIVERSITY OF ALABAMA AT BIRMINGHAM — BIRMINGHAM, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: MUKHERJEE, KONARK — UNIVERSITY OF ALABAMA AT BIRMINGHAM
- Study coordinator: MUKHERJEE, KONARK
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.