Clinical trial NCT05877274: Sodium Channel Mutations in Patient With the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
Official title: Sodium Channel Mutations (SCN9A, SCN10A) in the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)
Study type: OBSERVATIONAL
Overall status: UNKNOWN
Conditions: Anterior Cutaneous Nerve Entrapment Syndrome
Nerve Entrapment Syndrome
Chronic Pain Syndrome
Keywords: ACNES
Sodium channel mutations
Lead sponsor: Maxima Medical Center
Sponsor class: OTHER
First posted: 2023-05-26
Enrollment: 50
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: CROSS_SECTIONAL
Sampling method: NON_PROBABILITY_SAMPLE
Study population: All patients who are diagnosed with ACNES and receive treatment at our outpatient clinic, and fulfill the inclusion criteria.

Brief summary: 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.


Eligibility criteria: Inclusion Criteria:

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.

Exclusion Criteria:

* Inability to understand Dutch language.
* Known neuromuscular or neurodegenerative disease.

Primary outcomes:
measure: Sodium Channel 1.7 and 1.8 mutation.
timeFrame: 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.
Secondary outcomes:
measure: Correlation between mutations and known cause of ACNES.
timeFrame: Baseline data will be obtained during first outpatient visit, before start of the treatment. The first outpatient visit takes 30 minutes (standard of care).
measure: Correlation between mutations and pain score at start of treatment.
timeFrame: Baseline data will be obtained during first outpatient visit, before start of the treatment. The first outpatient visit takes 30 minutes (standard of care).
measure: Correlation between mutations and treatment response.
timeFrame: Treatment response will be assessed after each treatment during the treatment period at our outpatient clinic, up to 6 weeks after treatment.
Other outcomes:
Locations:
city: Veldhoven
country: Netherlands
facility: Maxima Medical Center
Study officials:
affiliation: Maxima Medical Center
name: Rudi Roumen, MD, PhD
role: PRINCIPAL_INVESTIGATOR
References: