Exploring new mouse models for a severe motor neuron disease.
Novel SMARD1 Mouse Models: Characterization and Evaluation of Potential Therapeutic Targets
['FUNDING_R01'] · UNIVERSITY OF MISSOURI-COLUMBIA · NIH-10778645
This study is looking into the causes of SMARD1, a rare disease that affects children's ability to move, by using special mouse models to learn more about a gene called IGHMBP2, which could help find new ways to treat this condition and similar ones.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF MISSOURI-COLUMBIA (nih funded) |
| Locations | 1 site (COLUMBIA, UNITED STATES) |
| Trial ID | NIH-10778645 on ClinicalTrials.gov |
What this research studies
This research investigates the genetic and biochemical underpinnings of SMARD1, a rare motor neuron disease that primarily affects children. By creating and characterizing novel mouse models, the study aims to understand the role of the IGHMBP2 gene and its mutations, which are linked to motor neuron degeneration. The researchers will explore shared pathways with other similar conditions, potentially leading to new therapeutic targets. Patients may benefit from insights that could inform future treatments for SMARD1 and related disorders.
Who could benefit from this research
Good fit: Ideal candidates for participation or benefit include children diagnosed with SMARD1 or related motor neuron diseases.
Not a fit: Patients with unrelated neurological conditions or those not affected by motor neuron diseases may not receive any benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to new therapeutic strategies for treating SMARD1 and similar motor neuron diseases.
How similar studies have performed: Other research has shown promise in using animal models to uncover therapeutic targets for motor neuron diseases, suggesting this approach could be effective.
Where this research is happening
COLUMBIA, UNITED STATES
- UNIVERSITY OF MISSOURI-COLUMBIA — COLUMBIA, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: LORSON, CHRISTIAN L. — UNIVERSITY OF MISSOURI-COLUMBIA
- Study coordinator: LORSON, CHRISTIAN L.
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, Gehrig's Disease, Lou Gehrig Disease