Understanding how GEMIN5 mutations cause a new type of cerebellar ataxia
Identifying the molecular mechanisms of GEMIN5 mutations in a novel cerebellar ataxia syndrome
['FUNDING_R01'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-10930099
This study is looking at how changes in the GEMIN5 gene might cause problems with movement and coordination in people with a specific type of cerebellar ataxia, and it aims to find out how these changes affect brain cells and test possible treatments to help improve symptoms.
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-10930099 on ClinicalTrials.gov |
What this research studies
This research investigates the role of GEMIN5, an RNA-binding protein, in a newly identified cerebellar ataxia syndrome linked to mutations in the GEMIN5 gene. By studying patient-derived neurons and using animal models, the research aims to uncover the molecular mechanisms that lead to motor dysfunction and cerebellar atrophy. The team will explore how these mutations affect the assembly of essential cellular components and test potential treatments, such as CoQ10, that may alleviate symptoms. Patients with specific GEMIN5 mutations will be central to this investigation.
Who could benefit from this research
Good fit: Ideal candidates for participation are individuals diagnosed with cerebellar ataxia linked to GEMIN5 mutations.
Not a fit: Patients with cerebellar ataxia not associated with GEMIN5 mutations may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for patients suffering from cerebellar ataxia caused by GEMIN5 mutations.
How similar studies have performed: Previous research has shown promising results in understanding similar genetic mechanisms and their implications for treatment.
Where this research is happening
PITTSBURGH, UNITED STATES
- UNIVERSITY OF PITTSBURGH AT PITTSBURGH — PITTSBURGH, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: PANDEY, UDAI B — UNIVERSITY OF PITTSBURGH AT PITTSBURGH
- Study coordinator: PANDEY, UDAI B
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.
Conditions: Aran-Duchenne disease