Understanding the causes of SPG4 Hereditary Spastic Paraplegia
Mechanisms of SPG4 Hereditary Spastic Paraplegia
['FUNDING_R01'] · DREXEL UNIVERSITY · NIH-10892167
This study is looking into how changes in the SPAST gene cause problems in the nerves for people with SPG4 Hereditary Spastic Paraplegia, with the hope of finding new ways to help those affected by this condition.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | DREXEL UNIVERSITY (nih funded) |
| Locations | 1 site (PHILADELPHIA, UNITED STATES) |
| Trial ID | NIH-10892167 on ClinicalTrials.gov |
What this research studies
This research investigates the mechanisms behind SPG4 Hereditary Spastic Paraplegia, a genetic condition that leads to progressive weakness and stiffness in the limbs due to degeneration of specific nerve pathways. The study focuses on the role of the SPAST gene and its protein, spastin, in the disease process. Researchers aim to uncover how mutations in this gene contribute to nerve damage and explore potential toxic effects of mutant proteins. By examining these mechanisms, the research seeks to provide insights that could lead to new treatment strategies for affected individuals.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with SPG4 Hereditary Spastic Paraplegia, particularly those with known mutations in the SPAST gene.
Not a fit: Patients with other forms of hereditary spastic paraplegia or unrelated neurological disorders may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and potential therapies for patients suffering from SPG4 Hereditary Spastic Paraplegia.
How similar studies have performed: Previous research has shown promise in understanding similar neurodegenerative conditions, suggesting that this approach could yield valuable insights.
Where this research is happening
PHILADELPHIA, UNITED STATES
- DREXEL UNIVERSITY — PHILADELPHIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: BAAS, PETER W. — DREXEL UNIVERSITY
- Study coordinator: BAAS, PETER W.
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.