Investigating how calcium regulation affects heart function in spinal muscular atrophy.
Official title: Calcium Dysregulation and Cell Function in Spinal Muscular Atrophy
Funded at Henry M. Jackson Fdn for the Adv Mil/med · NIH-11005051 · Data updated 2026-11-12
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 start | January 20, 2021 |
| Project end | December 31, 2025 |
| Funding year | 2025 |
| Award (this year) | $343,117 |
| NIH project number | 5R01NS119594-05 |
| Project ID | NIH-11005051 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are infants and young children diagnosed with spinal muscular atrophy.
✕Less likely to help
Patients with spinal muscular atrophy who are older than 11 years or those without significant cardiac involvement may not benefit from this research.
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.
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 gone: 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
-
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
Related research
Other NIH-funded projects on the same topics.
-
Genetic clues to mouth muscles development in SMA
A small NIH grant studies how nerve cells controlling jaw movements develop normally and how this process goes wrong in spinal muscular atrophy (SMA).
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Therapeutic gene editing for spinal muscular atrophy
A patient-facing look at a project that aims to test a gene-editing approach to help children with spinal muscular atrophy.
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SMN-independent approaches for spinal muscular atrophy
This project looks for new treatments for people with spinal muscular atrophy that work without relying only on restoring the SMN protein.
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How RNA problems cause nerve and muscle damage in spinal muscular atrophy
This project looks at how RNA-related problems lead to nerve and muscle damage in people with spinal muscular atrophy to help find better treatment targets.
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Investigating speech development in children with spinal muscular atrophy after new therapies
This study is looking at how new treatments for spinal muscular atrophy (SMA) can help improve speech and communication skills in children and young adults aged 2 to 21, by comparing their speech abilities to what’s expected for their age.
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Correcting Genetic Errors for Spinal Muscular Atrophy
This research looks for new ways to fix the genetic problem that causes Spinal Muscular Atrophy, a condition that weakens muscles.
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.