Developing a targeted treatment for Hailey Hailey Disease
Towards a targeted therapy for Hailey Hailey Disease
This study is looking into Hailey Hailey Disease, a rare skin condition that causes painful blisters, to better understand how a specific gene affects skin health, with the hope of creating a new treatment that can help make life easier for those living with this condition.
Quick facts
| Grant type | R03 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project ID | NIH-10885628 on NIH RePORTER |
What this research studies
This research focuses on Hailey Hailey Disease (HHD), a rare skin disorder that causes painful blisters primarily in skin folds. The study aims to understand the genetic and biochemical mechanisms behind HHD, particularly the role of the ATP2C1 gene and its protein product, SPCA1, in maintaining calcium levels crucial for skin cell adhesion. By investigating these mechanisms, the research seeks to develop a targeted therapy that could improve the quality of life for patients suffering from this condition.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Hailey Hailey Disease who experience recurrent skin blistering and related complications.
Not a fit: Patients with other skin disorders or those who do not have Hailey Hailey Disease may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to a specific treatment for Hailey Hailey Disease, significantly reducing symptoms and improving patients' quality of life.
How similar studies have performed: While research on Hailey Hailey Disease is limited, similar genetic and targeted therapy approaches have shown promise in treating other genetic skin disorders.
Where this research is happening
Baltimore, United States
- Johns Hopkins University — Baltimore, United States (Active)
Researchers
- Principal investigator: Rao, Rajini — Johns Hopkins University
- Study coordinator: Rao, Rajini
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.