Understanding the RNA changes that lead to congenital myotonic dystrophy
Official title: Identifying the RNA Splicing and Gene Expression Changes that Cause Congenital Myotonic Dystrophy (Renewal)
Funded at Virginia Commonwealth University · NIH-10882023 · Data updated 2026-11-12
This study is looking at how congenital myotonic dystrophy affects kids' muscles from birth to age 16 by examining muscle samples to see how changes in genes relate to their symptoms, with the hope of finding better ways to diagnose and treat the condition.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Virginia Commonwealth University NIH-funded |
| Lab location | 1 site (Richmond, United States) |
| Project start | April 1, 2018 |
| Project end | July 31, 2029 |
| Funding year | 2024 |
| Award (this year) | $619,566 |
| NIH project number | 2R01NS104010-07A1 |
| Project ID | NIH-10882023 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research are children diagnosed with congenital myotonic dystrophy, particularly those between the ages of 0 and 16.
✕Less likely to help
Patients with other forms of myotonic dystrophy or those outside the specified age range may not benefit from this research.
What this research studies
This research investigates congenital myotonic dystrophy, a severe condition that affects muscle function and development from birth. The team will analyze RNA splicing and gene expression changes in muscle biopsies from affected individuals aged 0 to 16 years to understand how these changes correlate with the symptoms experienced at different ages. By studying over 100 children, the researchers aim to uncover the mechanisms behind the varying severity of symptoms throughout development. This could lead to better diagnostic and therapeutic strategies for managing the condition.
Why it matters
Potential benefit: If successful, this research could lead to improved understanding and treatment options for congenital myotonic dystrophy, enhancing the quality of life for affected individuals.
How similar studies have gone: Previous research has shown promising results in understanding RNA splicing in myotonic dystrophy, indicating that this approach may yield valuable insights.
Where this research is happening
-
Virginia Commonwealth University
Richmond, United States Active
Researchers
- Principal investigator: Johnson, Nicholas Elwood — Virginia Commonwealth University
- Study coordinator: Johnson, Nicholas Elwood
Related research
Other NIH-funded projects on the same topics.
-
New small molecule therapeutics to help myotonic dystrophy
A new NIH-funded project tests specially designed small molecules to lower harmful RNA activity in myotonic dystrophy and related diseases, aiming to reduce disease-driving RNA effects.
-
Mechanisms of muscle disease in myotonic dystrophy type 1
This project looks at why skeletal muscles weaken and waste away in adults with myotonic dystrophy type 1 and aims to uncover the underlying molecular causes.
-
Extracellular vesicle biomarkers to monitor DM1 using urine and blood samples
A study looking for easy, noninvasive biomarkers in urine and blood to track disease activity in people with myotonic dystrophy type 1.
-
Calcium Channel Blocker in DM1: Can amlodipine help myotonic dystrophy type 1
This study tests whether the calcium‑channel blocker amlodipine can improve symptoms and survival in myotonic dystrophy type 1 (DM1).
-
Preparing therapies for DM1 across ages, with a focus on children
A broad, patient-focused effort to bring promising DM1 therapies to both children and adults by enriching trial readiness, biomarkers, and natural history data.
-
Biological factors that drive variability in myotonic dystrophy
This grant explores why myotonic dystrophy can look very different from person to person by studying its genetic changes and how they affect muscle in adults.
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.