Restoring function in a gene related to Lowe Syndrome and Dent-2 disease
Restoring Ocrl1 function in Lowe Syndrome and Dent-2 disease
This study is looking for new ways to help kids with Lowe Syndrome and Dent-2 disease by testing some existing medications to see if they can make a faulty protein work better, with the hope of easing their symptoms and improving their lives.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Purdue University NIH-funded |
| Lab location | 1 site (West Lafayette, United States) |
| Project ID | NIH-10898686 on NIH RePORTER |
What this research studies
This research focuses on Lowe Syndrome and Dent-2 disease, both caused by mutations in the OCRL1 gene. The project aims to restore the function of the mutated OCRL1 protein using allosteric activators, which are drugs that can stabilize the protein's active form. By screening various compounds, including some that are already FDA-approved, the researchers hope to identify effective treatments that can alleviate the symptoms associated with these conditions. The ultimate goal is to improve the quality of life for affected children and potentially extend their lifespan.
Who could benefit from this research
Good fit: Ideal candidates for this research are children diagnosed with Lowe Syndrome or Dent-2 disease, particularly those with specific mutations in the OCRL1 gene.
Not a fit: Patients with other genetic disorders unrelated to OCRL1 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that significantly improve the health and longevity of children with Lowe Syndrome and Dent-2 disease.
How similar studies have performed: Previous research has shown promise in using allosteric activators for similar genetic conditions, indicating potential for success in this approach.
Where this research is happening
West Lafayette, United States
- Purdue University — West Lafayette, United States (Active)
Researchers
- Principal investigator: Aguilar, Ruben Claudio — Purdue University
- Study coordinator: Aguilar, Ruben Claudio
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.