Investigating vision loss in children with LCHADD
Exploring the pathophysiology and treatment of LCHADD retinopathy
This study is looking into a rare genetic condition called LCHADD that causes vision loss in kids, and the researchers are trying to find ways to help prevent or even fix that vision loss by learning more about how the disease affects the eyes.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Oregon Health & Science University NIH-funded |
| Lab location | 1 site (Portland, United States) |
| Project ID | NIH-10892206 on NIH RePORTER |
What this research studies
This research focuses on understanding and treating retinopathy associated with Long-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD), a rare genetic disorder that leads to progressive vision loss in children. The researchers have developed experimental models to study the disease, including mouse models and human cells derived from patients. By exploring the underlying mechanisms of retinal damage, the team aims to identify potential therapeutic approaches to prevent or reverse vision loss in affected children.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Long-chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) or mitochondrial Trifunctional Protein Deficiency (TFPD).
Not a fit: Patients who do not have LCHADD or TFPD, or those who are older than 11 years, may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve or preserve vision in children suffering from LCHADD-related retinopathy.
How similar studies have performed: While there has been limited success in treating LCHADD-related retinopathy, this research aims to explore novel approaches that have not been extensively tested before.
Where this research is happening
Portland, United States
- Oregon Health & Science University — Portland, United States (Active)
Researchers
- Principal investigator: Gillingham, Melanie B — Oregon Health & Science University
- Study coordinator: Gillingham, Melanie B
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.