Investigating how calcium regulation affects heart function in spinal muscular atrophy.
Calcium Dysregulation and Cell Function in Spinal Muscular Atrophy
This study is looking at how a lack of a certain protein affects the heart in children with spinal muscular atrophy (SMA), hoping to find new ways to help manage heart problems that can come with this condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Henry M. Jackson Fdn for the Adv Mil/med NIH-funded |
| Lab location | 1 site (Bethesda, United States) |
| Project ID | NIH-11005051 on NIH RePORTER |
What this research studies
This research focuses on spinal muscular atrophy (SMA), a severe genetic disorder affecting infants and young children. It aims to understand how a deficiency in the SMN protein impacts heart muscle cells, potentially leading to heart-related complications in SMA patients. By using heart cells derived from both mouse models and human stem cells of SMA patients, the research will explore the effects of SMN deficiency on heart cell function and the underlying molecular mechanisms. The findings could provide new insights into managing SMA and its associated cardiovascular issues.
Who could benefit from this research
Good fit: Ideal candidates for this research are infants and young children diagnosed with spinal muscular atrophy.
Not a fit: Patients with spinal muscular atrophy who are older than 11 years or those without significant cardiac involvement may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to improved treatment strategies for SMA that address both motor and cardiac symptoms.
How similar studies have performed: While there has been research on SMA therapies, this specific focus on cardiac function in SMA is novel and has not been extensively studied.
Where this research is happening
Bethesda, United States
- Henry M. Jackson Fdn for the Adv Mil/med — Bethesda, United States (Active)
Researchers
- Principal investigator: Flagg, Thomas — Henry M. Jackson Fdn for the Adv Mil/med
- Study coordinator: Flagg, Thomas
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.