Investigating sodium channel mutations as a cause of primary dysautonomia
Official title: Sodium channel mutations as a possible cause for primary dysautonomia
Funded at Johns Hopkins University · NIH-11005007 · Data updated 2026-11-12
This study is looking at families with primary dysautonomia to find out if certain genetic changes, especially in sodium channel genes, are causing the condition, and it also aims to test new treatments that could help ease the symptoms for those affected.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | Johns Hopkins University NIH-funded |
| Lab location | 1 site (Baltimore, United States) |
| Project start | February 15, 2023 |
| Project end | December 31, 2027 |
| Funding year | 2025 |
| Award (this year) | $439,639 |
| NIH project number | 5R01NS126398-03 |
| Project ID | NIH-11005007 on NIH RePORTER |
Who could benefit from this research
✓Could help
Ideal candidates for this research include individuals with a family history of primary dysautonomia and symptoms such as chronic orthostatic intolerance, chronic fatigue, and generalized anxiety.
✕Less likely to help
Patients without a familial link to primary dysautonomia or those who do not exhibit the specific symptoms associated with the condition may not benefit from this research.
What this research studies
This research focuses on primary dysautonomia, a condition where the autonomic nervous system does not function properly, leading to various disabling symptoms. The team is studying families with a genetic pattern of this condition to identify potential genetic mutations, particularly in sodium channel genes, that may contribute to the disorder. By using whole-exome sequencing, they aim to uncover the genetic origins of primary dysautonomia and explore how these mutations affect the autonomic nervous system. The research also includes testing treatments that target these sodium channels to alleviate symptoms experienced by affected individuals.
Why it matters
Potential benefit: If successful, this research could lead to targeted therapies that address the underlying genetic causes of primary dysautonomia, improving patient outcomes.
How similar studies have gone: Previous research has shown promise in identifying genetic factors related to autonomic dysfunction, suggesting that this approach may yield valuable insights.
Where this research is happening
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Johns Hopkins University
Baltimore, United States Active
Researchers
- Principal investigator: Brock, Malcolm V — Johns Hopkins University
- Study coordinator: Brock, Malcolm V
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.