How a KIF5A gene change leads to ALS
Pathogenic mechanisms of KIF5A-associated ALS
['FUNDING_R01'] · EMORY UNIVERSITY · NIH-11325057
Researchers are looking at how a specific KIF5A gene change harms motor neurons in people with ALS to point toward future treatments.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | EMORY UNIVERSITY (nih funded) |
| Locations | 1 site (ATLANTA, UNITED STATES) |
| Trial ID | NIH-11325057 on ClinicalTrials.gov |
What this research studies
This project uses mice engineered with the KIF5A exon 27 skipping change and nerve cells grown from patient-derived stem cells to see what goes wrong in motor neurons. The team will track cargo movement inside axons, look for abnormal protein clumps, and profile changes in mRNA and splicing in spinal cord tissue and cultured motor neurons. They combine imaging, proteomics, and molecular analyses to map pathways that become altered with the KIF5AΔE27 variant. The work aims to pinpoint the toxic steps that could be targeted by new therapies.
Who could benefit from this research
Good fit: Ideal candidates would be people with ALS who carry KIF5A mutations or those willing to donate cells or biospecimens for research, often coordinated through the host institution.
Not a fit: Patients without KIF5A-related ALS or those not able to provide samples are less likely to see direct benefits from this specific research in the near term.
Why it matters
Potential benefit: If successful, the work could reveal disease mechanisms and new molecular targets or biomarkers that guide future therapies for KIF5A-linked ALS.
How similar studies have performed: Related lab studies using mouse models and patient-derived motor neurons have clarified mechanisms for other ALS genes, but focused work on the KIF5AΔE27 variant is relatively new.
Where this research is happening
ATLANTA, UNITED STATES
- EMORY UNIVERSITY — ATLANTA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: JIANG, JIE — EMORY UNIVERSITY
- Study coordinator: JIANG, JIE
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: Amyotrophic Lateral Sclerosis Motor Neuron Disease