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

NCT05877274 | Unknown DMC

• 1 other identifier: NL84021.015.23
• Study Type: observational
• Target: 50
• Locations: 1 country
• Sites: 1

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.

Conditions

Anterior Cutaneous Nerve Entrapment Syndrome; Nerve Entrapment Syndrome; Chronic Pain Syndrome

Keywords

ACNES; Sodium channel mutations

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (3)

• 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.

Study Arms (1)

Patients with ACNES

Patients with ACNES who fulfill the inclusion criteria.

Other: Sodium channel mutation

Interventions

Sodium channel mutation OTHER

Mutation of the genes SCN9A and SCN10A, which encode for Sodium channel 1.7 and 1.8.

Patients with ACNES

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• 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.

You may qualify if:

• 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.

You may not qualify if:

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

Sponsors & Collaborators

• Maxima Medical Center: lead

Study Sites (1)

Maxima Medical Center

Veldhoven, 5504 DB, Netherlands

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

One whole blood sample

MeSH Terms

Conditions

Charcot-Marie-Tooth Disease

Condition Hierarchy (Ancestors)

Hereditary Sensory and Motor Neuropathy; Nervous System Malformations; Nervous System Diseases; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Polyneuropathies; Peripheral Nervous System Diseases; Neuromuscular Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn

Study Officials

• Rudi Roumen, MD, PhD

  Maxima Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Tom ten Have, MD

CONTACT

0408887461; Tom.ten.Have@mmc.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Head of surgery, Principal Investigator

Study Record Dates

• First Submitted: April 16, 2023
• First Posted: May 26, 2023
• Study Start: October 3, 2023
• Primary Completion: June 1, 2024
• Study Completion: December 1, 2024
• Last Updated: October 30, 2023

Record last verified: 2023-05

Locations

NL (1)