Classical Trigeminal Neuralgia and Sodium Channel Mutations
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 33
- 主要终点
- Exploratory study of association between phenotype and genotype of trigeminal neuralgia
研究概览
简要总结
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.
详细描述
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
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- 未提供
排除标准
- 未提供
结局指标
主要结局
Exploratory study of association between phenotype and genotype of trigeminal neuralgia
时间窗: 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.
次要结局
未报告次要终点
研究者
Tone Heinskou
MD, PhD student
Danish Headache Center