Sodium Channel Mutations (SCN9A, SCN10A) in the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Sodium Channel 1.7 and 1.8 mutation.
研究概览
简要总结
The goal of this observational study is to learn about sodium channel (Nav) mutations in patients with the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES). This study will give more insight into the pathophysiology of ACNES, which is still largely unknown.
The primary objective is to determine if there are mutations of Nav1.7 and Nav1.8 in patients with ACNES. Therefore, one blood sample will be drawn, in which the mutations will be analyzed.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
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
- •In order to be eligible to participate in this study, a subject must be diagnosed with ACNES and receive treatment at our outpatient clinic. Additionally, subject has to meet one of the following criteria:
- •Known to have a first- or second-degree relative with ACNES;
- •Have more than one recurrence of ACNES after a pain free period or ACNES at multiple locations in the abdominal wall;
- •Persistent pain after posterior neurectomy.
排除标准
- •Inability to understand Dutch language.
- •Known neuromuscular or neurodegenerative disease.
结局指标
主要结局
Sodium Channel 1.7 and 1.8 mutation.
时间窗: Blood samples for SCN analysis will be taken only once after obtaining informed consent. This is the start of the study. Outpatient discharge (free of pain or no treatment options) is end of study. Treatment period can be a couple of weeks or months.
Number of SCN9A and SCN10A mutations. Each mutation will be classified following one of three classes; unknown pathogenicity, probable pathogenicity, and pathogen variant.
次要结局
- Correlation between mutations and known cause of ACNES.(Baseline data will be obtained during first outpatient visit, before start of the treatment. The first outpatient visit takes 30 minutes (standard of care).)
- Correlation between mutations and pain score at start of treatment.(Baseline data will be obtained during first outpatient visit, before start of the treatment. The first outpatient visit takes 30 minutes (standard of care).)
- Correlation between mutations and treatment response.(Treatment response will be assessed after each treatment during the treatment period at our outpatient clinic, up to 6 weeks after treatment.)
研究者
dr. RMH Roumen, surgeon
Head of surgery, Principal Investigator
Maxima Medical Center