Finding ways to restore protein function in Lowe Syndrome and Dent-2 disease
Restoring Ocrl1 function in Lowe Syndrome and Dent-2 disease
['FUNDING_R01'] · PURDUE UNIVERSITY · NIH-11128743
This project looks for new medicines that can help children with Lowe Syndrome and patients with Dent-2 disease by fixing a problem with a specific protein.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | PURDUE UNIVERSITY (nih funded) |
| Locations | 1 site (WEST LAFAYETTE, UNITED STATES) |
| Trial ID | NIH-11128743 on ClinicalTrials.gov |
What this research studies
Lowe Syndrome and Dent-2 disease are caused by changes in a gene called OCRL1, which leads to a protein that doesn't work correctly. Our team believes that some of these faulty proteins can be made to work again with the right kind of drug. We have already found some promising compounds, including some existing FDA-approved medicines, that can restore the protein's activity in lab tests. This work aims to further test these potential medicines to see if they can help improve the health of those affected by these conditions.
Who could benefit from this research
Good fit: This research is focused on understanding and treating Lowe Syndrome and Dent-2 disease, which primarily affect children and young adults.
Not a fit: Patients without Lowe Syndrome or Dent-2 disease, or those whose condition is not linked to OCRL1 gene mutations, would not directly benefit from this specific research.
Why it matters
Potential benefit: If successful, this work could lead to the first treatments for Lowe Syndrome and Dent-2 disease, potentially improving the lives and extending the lifespan of affected children and patients.
How similar studies have performed: Our lab has identified compounds that restore protein activity in cells, suggesting a promising path forward for this novel 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.