Inherited sodium channel changes linked to primary dysautonomia
Sodium channel mutations as a possible cause for primary dysautonomia
This project looks for inherited changes in sodium channel genes that might cause primary dysautonomia in people from affected families.
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 ID | NIH-11299046 on NIH RePORTER |
What this research studies
You and other family members who have long-standing autonomic symptoms may be asked to provide medical history and a blood sample for genetic sequencing to find shared gene changes. Researchers will analyze whole-exome data to spot mutations in voltage-gated sodium (NaV) channel genes and then study how those changes alter nerve cell function using laboratory models. The team has already treated some family members with sodium-channel drugs and seen symptom improvements, and they will use those clinical observations to guide further work. Participation could include clinic visits at Johns Hopkins and possible follow-up about genetic results and treatment options.
Who could benefit from this research
Good fit: Ideal candidates are people from families with a dominant pattern of autonomic problems such as chronic orthostatic intolerance, fatigue, focal hyperhidrosis, chronic itch, or anxiety.
Not a fit: People whose autonomic symptoms are clearly due to non-genetic causes or who do not carry the implicated sodium channel mutations are unlikely to benefit directly from this project.
Why it matters
Potential benefit: If successful, the work could identify genetic causes that lead to more precise, mechanism-based treatments for people with familial primary dysautonomia.
How similar studies have performed: Related research has linked sodium channel mutations to other nerve and cardiac disorders, but applying this approach to familial primary dysautonomia is relatively new.
Where this research is happening
Baltimore, United States
- 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 below.