Classical Trigeminal Neuralgia and Sodium Channel Mutations
- Conditions
- Trigeminal Neuralgia
- Registration Number
- NCT03656497
- Lead Sponsor
- Danish Headache Center
- Brief Summary
The most common cause of trigeminal neuralgia is considered to be a neurovascular contact. However, this etiological factor only seem to be present in half of the patient group. Thus the etiology of the other half is unknown.
Gain-of function genetic mutations in voltage gated sodium channels have been hypothesized as playing a role in the etiology of trigeminal neuralgia but it has yet to be confirmed. In recent years gain-of-function mutations have been identified as a causative factor in other pain-diseases presenting with trigeminal neuralgia phenotypic similarities.
- Detailed Description
The aim of this study was to indentify VGSC gene mutations, specifically SCN9A, SCN10A and SCN11A genes, in a group of well characterized trigeminal neuralgia patients.
Setting: The study will be conducted at The Danish Headache Center, Rigshospitalet - Glostrup, Denmark (inclusion of patients and written Informed Consent, patient interview, phenotyping/diagnosis, neurological examination, blood sample.
Departments of Neurology and Clinical Genomics of the Maastricht University Medical Center, Maastricht, the Netherlands: Targeted NG Sanger Sequencing
Recruitment & Eligibility
- Status
- COMPLETED
- Sex
- All
- Target Recruitment
- 33
Not provided
Not provided
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Exploratory study of association between phenotype and genotype of trigeminal neuralgia 1 day To identify genetic mutations, via Sanger Next Generation Sequencing, in either NaV 1.7, NaV1.8 or NaV1.9 encoding genes and link the findings to the phenotype of trigeminal neurlagia patients with a high genetic load.
- Secondary Outcome Measures
Name Time Method