CaV1.1-linked hypokalemic periodic paralysis: causes and treatment approaches
Disease Pathogenesis and Modification for CaV1.1-Associated Hypokalemic Periodic Paralysis
['FUNDING_R01'] · UNIVERSITY OF CALIFORNIA LOS ANGELES · NIH-11235194
This project studies how CaV1.1 gene mutations cause low‑potassium muscle weakness and explores ways to stop attacks and slow permanent weakness in people with hypokalemic periodic paralysis.
Quick facts
| Phase | ['FUNDING_R01'] |
|---|---|
| Study type | Nih_funding |
| Sex | All |
| Sponsor | UNIVERSITY OF CALIFORNIA LOS ANGELES (nih funded) |
| Locations | 1 site (LOS ANGELES, UNITED STATES) |
| Trial ID | NIH-11235194 on ClinicalTrials.gov |
What this research studies
Researchers at UCLA are studying the faulty calcium channel (CaV1.1) caused by CACNA1S mutations that lead to low‑potassium paralysis. They measure abnormal 'gating‑pore' leak currents in laboratory models and use computer simulations to see how small leaks depolarize muscle cells. The team tests strategies to block or compensate for the leak in cells and animal models and watches how those changes affect muscle excitability. Results are intended to point toward targeted therapies to prevent attacks and reduce long‑term permanent muscle weakness.
Who could benefit from this research
Good fit: People diagnosed with hypokalemic periodic paralysis who carry CaV1.1 (CACNA1S) mutations are the primary candidates to benefit or participate.
Not a fit: People whose muscle weakness is due to other causes or who lack CaV1.1 mutations (for example those with only SCN4A mutations or unrelated neuromuscular disorders) may not benefit directly.
Why it matters
Potential benefit: If successful, the work could lead to treatments that prevent low‑potassium attacks and reduce long‑term muscle weakness in affected patients.
How similar studies have performed: Prior studies identified the gating‑pore leak mechanism and current symptom treatments give limited relief, so directly targeting the gating pore is a relatively new and unproven therapeutic approach.
Where this research is happening
LOS ANGELES, UNITED STATES
- UNIVERSITY OF CALIFORNIA LOS ANGELES — LOS ANGELES, UNITED STATES (ACTIVE)
Researchers
- Principal investigator: CANNON, STEPHEN C. — UNIVERSITY OF CALIFORNIA LOS ANGELES
- Study coordinator: CANNON, STEPHEN C.
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.