Sodium Channel Mutations in Patient With the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES) (Nav-ACNES)

Sodium Channel Mutations (SCN9A, SCN10A) in the Anterior Cutaneous Nerve Entrapment Syndrome (ACNES)

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.

Study Overview

• Status: Recruiting
• Conditions: Chronic Pain Syndrome; Nerve Entrapment Syndrome; Anterior Cutaneous Nerve Entrapment Syndrome
• Intervention / Treatment: Other: Sodium channel mutation

• Study Type: Observational
• Enrollment (Estimated): 50

Contacts and Locations

• Study Contact: Name: Tom ten Have, MD; Phone Number: 0408887461; Email: Tom.ten.Have@mmc.nl

Study Locations

• Netherlands
  • Veldhoven, Netherlands, 5504 DB
    • Recruiting
    • Maxima Medical Center
    • Contact: Tom ten Have, MD; Phone Number: +31408887461; Email: Tom.ten.Have@mmc.nl
    • Principal Investigator: Rudi Roumen, MD, PhD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with ACNES; Patients with ACNES who fulfill the inclusion criteria.	Other: Sodium channel mutation; Mutation of the genes SCN9A and SCN10A, which encode for Sodium channel 1.7 and 1.8.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Sodium Channel 1.7 and 1.8 mutation.	Number of SCN9A and SCN10A mutations. Each mutation will be classified following one of three classes; unknown pathogenicity, probable pathogenicity, and pathogen variant.	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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
Correlation between mutations and known cause of ACNES.	Patients are asked (standard of care) if there is a possible cause of the ACNES. Correlations between the causes of ACNES and any identified mutations will be examined.	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.	Patients are asked (standard of care) about the average pain score following the 0-10 numeric rating scale (NRS) (0 = no pain, 10 worst possible pain). Correlations between the NRS pain score and found mutations will be examined.	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.	Patients follow different treatments according standard of care for ACNES. Starting with trigger point injections with a local anesthetic, if this treatment is not sufficient, it is followed by Pulse Radiofrequency. When patients still experience pain after minimal invasive treatments, a surgical neurectomy is performed. Correlations between treatment outcome after the different treatment options and found mutations will be examined. Treatment is defined successful if the patient does not need additional treatment, has >50% pain reduction, or reduction of >4 NRS points.	Treatment response will be assessed after each treatment during the treatment period at our outpatient clinic, up to 6 weeks after treatment.

Collaborators and Investigators

• Sponsor: Maxima Medical Center
• Investigators: Principal Investigator: Rudi Roumen, MD, PhD, Maxima Medical Center

Study record dates

Study Major Dates

• Study Start (Actual): October 3, 2023
• Primary Completion (Estimated): June 1, 2024
• Study Completion (Estimated): December 1, 2024

Study Registration Dates

• First Submitted: April 16, 2023
• First Submitted That Met QC Criteria: May 24, 2023
• First Posted (Actual): May 26, 2023

Study Record Updates

• Last Update Posted (Actual): October 30, 2023
• Last Update Submitted That Met QC Criteria: October 26, 2023
• Last Verified: May 1, 2023

More Information

Terms related to this study

• Keywords: ACNES; Sodium channel mutations
• Additional Relevant MeSH Terms: Pathologic Processes; Nervous System Diseases; Pain; Neurologic Manifestations; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Neuromuscular Diseases; Neurodegenerative Diseases; Peripheral Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Nervous System Malformations; Polyneuropathies; Syndrome; Chronic Pain; Nerve Compression Syndromes; Charcot-Marie-Tooth Disease; Hereditary Sensory and Motor Neuropathy
• Other Study ID Numbers: NL84021.015.23

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No