Understanding the genetic causes of spinocerebellar ataxia type 1
Molecular genetics of neurodegenerative pathogenic and protective pathways: The SCA1 perspective
['FUNDING_OTHER'] · UNIVERSITY OF MINNESOTA · NIH-11083026
This study is looking into how changes in a specific protein related to spinocerebellar ataxia type 1 (SCA1) affect brain cells, with the hope of finding new ways to help manage symptoms and slow down the disease for those living with it.
Quick facts
| Phase | ['FUNDING_OTHER'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MINNESOTA (nih funded) |
| Locations | 1 site (MINNEAPOLIS, UNITED STATES) |
| Trial ID | NIH-11083026 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic mechanisms behind spinocerebellar ataxia type 1 (SCA1), a neurodegenerative disease characterized by motor coordination loss and cognitive impairment. The study focuses on the role of the ataxin-1 protein and how its genetic mutations lead to the degeneration of specific brain cells. By exploring the signaling pathways and cellular changes associated with SCA1, the research aims to identify potential therapeutic targets that could alleviate symptoms or slow disease progression.
Who could benefit from this research
Good fit: Ideal candidates for this research are individuals diagnosed with spinocerebellar ataxia type 1 or those with a family history of the disease.
Not a fit: Patients with other forms of ataxia or neurodegenerative diseases unrelated to SCA1 may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new treatments that improve motor function and cognitive abilities in patients with SCA1.
How similar studies have performed: Previous research on genetic pathways in neurodegenerative diseases has shown promise, suggesting that this approach could yield valuable insights and potential breakthroughs.
Where this research is happening
MINNEAPOLIS, UNITED STATES
- UNIVERSITY OF MINNESOTA — MINNEAPOLIS, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: ORR, HARRY T. — UNIVERSITY OF MINNESOTA
- Study coordinator: ORR, HARRY T.
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.