How GEMIN5 gene changes cause a newly described cerebellar ataxia
Identifying the molecular mechanisms of GEMIN5 mutations in a novel cerebellar ataxia syndrome
['FUNDING_R01'] · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · NIH-11167800
This project looks at whether GEMIN5 gene changes damage nerve-cell splicing machinery and whether treatments like CoQ10 can help people with a new form of cerebellar ataxia.
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-11167800 on ClinicalTrials.gov |
What this research studies
Researchers are studying cells from affected patients and patient-derived neurons to see how GEMIN5 mutations disrupt assembly of splicing complexes. They will test molecular effects on snRNP formation and protein stability, and use fruit fly and mouse models to link those changes to motor problems. The team is also measuring CoQ10 levels and testing whether CoQ10 supplementation improves signs in patient cells and animal models. The work combines lab studies of patient samples with genetic animal models to pinpoint causes and possible treatments.
Who could benefit from this research
Good fit: Ideal candidates are people with early-onset motor dysfunction, ataxia, cerebellar atrophy, and confirmed or suspected GEMIN5 mutations, or those willing to provide blood or skin samples for genetic and cellular studies.
Not a fit: People with other causes of ataxia who do not carry GEMIN5 variants or those with end-stage disease are unlikely to benefit directly from this specific research.
Why it matters
Potential benefit: If successful, this work could point to treatments—such as CoQ10 supplementation or approaches to restore normal splicing—that slow or improve motor symptoms in people with GEMIN5-related ataxia.
How similar studies have performed: Early patient-cell data and animal-model experiments reported by the team suggest CoQ10 levels are low and supplementation helped in models and initial patient observations, but this genetic form is newly described and broader clinical evidence is limited.
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