Understanding how Lamin B1 affects a rare neurological disease
Elucidating Regulatory Mechanisms of Lamin B1 Expression in Autosomal Dominant Leukodystrophy
['FUNDING_R01'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-11005021
This study is looking into Autosomal Dominant Leukodystrophy (ADLD), a serious brain condition, to understand how changes in a gene called Lamin B1 affect the disease, with the hope of finding new ways to help manage or treat it for those affected.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF PITTSBURGH AT PITTSBURGH (nih funded) |
| Locations | 1 site (PITTSBURGH, UNITED STATES) |
| Trial ID | NIH-11005021 on ClinicalTrials.gov |
What this research studies
This research investigates Autosomal Dominant Leukodystrophy (ADLD), a severe neurological condition that leads to the loss of myelin in the central nervous system. The study focuses on the Lamin B1 gene, which is linked to this disease due to specific genetic mutations. By analyzing patient data and using advanced cell models, researchers aim to uncover the regulatory mechanisms that control Lamin B1 expression and how these contribute to the disease. The goal is to identify potential therapeutic targets that could help manage or treat ADLD.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with Autosomal Dominant Leukodystrophy, particularly those with known mutations in the Lamin B1 gene.
Not a fit: Patients without a diagnosis of Autosomal Dominant Leukodystrophy or those with different neurological conditions may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that slow down or prevent the progression of ADLD.
How similar studies have performed: While the specific approach of this research is novel, similar studies have successfully identified genetic mechanisms in other neurological disorders.
Where this research is happening
PITTSBURGH, UNITED STATES
- UNIVERSITY OF PITTSBURGH AT PITTSBURGH — PITTSBURGH, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PADIATH, QUASAR S — UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- Study coordinator: PADIATH, QUASAR S
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.