Analysis of Cutaneous Nerve Biopsies in Gastrointestinal Motility Disorders

This study is being done to evaluate cutaneous nerve biopsies from patients with refractory gastrointestinal motility disorders. The purpose of the study is to evaluate skin biopsies for signs of small fiber neuropathy in GI dysmotility patients, which may provide a better understanding of the underlying pathology of their condition. Specifically, identifying any small fiber neuropathy that may exist in the peripheral nervous system may help us to better understand the mechanism of presumed enteric neuropathy that may be involved in causing GI dysmotility.

Study Overview

• Status: Not yet recruiting
• Conditions: Small Fiber Neuropathy; Gastrointestinal Dysmotility
• Intervention / Treatment: Procedure: Skin biopsy

Detailed Description

1. Gather basic, clinical information and perform small 3-6mm skin biopsies.
2. Identify characteristics of epidermal nerve fibers in patients with symptoms of gastrointestinal dysmotility
3. To isolate skin-derived precursor cells from skin biopsies and test their ability to generate neurons in vitro and in immune-deficient mouse models.

• Study Type: Interventional
• Enrollment (Anticipated): 10
• Phase: Not Applicable

Contacts and Locations

Study Locations

• United States
  • Maryland
    • Baltimore, Maryland, United States, 21224
      • Johns Hopkins Bayview Medical Center

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 18 years and older (ADULT, OLDER_ADULT)
• Accepts Healthy Volunteers: Yes
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Individual with a gastrointestinal motility disorder that has failed both clinical and surgical options for symptomatic management

Exclusion Criteria:

• Child 17 years of age or younger
• Individuals incapable of informed consent
• Patient with diseased skin or on drugs which affect skin biology.

Study Plan

How is the study designed?

Design Details

• Primary Purpose: OTHER
• Allocation: NON_RANDOMIZED
• Interventional Model: PARALLEL
• Masking: NONE

Number of Arms

2

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
EXPERIMENTAL: Gastrointestinal dysmotility participants	Procedure: Skin biopsy; Any combination of the following six 3-6mm skin biopsies may be taken: palm, dorsum of hand, calf, other non-genital and non-face (this last one includes areas for use as negative controls which are not on the distal limbs). No more than 6 biopsies will be taken at one time.The biopsy size 3-6mm and method (punch, shave or wedge) will be done depending on the biologic assay destined for the biopsy. While 3mm will be sufficient for microarray analysis, 6mm will be required for any cell sorting preceding microarray analysis.
OTHER: Healthy participants	Procedure: Skin biopsy; Any combination of the following six 3-6mm skin biopsies may be taken: palm, dorsum of hand, calf, other non-genital and non-face (this last one includes areas for use as negative controls which are not on the distal limbs). No more than 6 biopsies will be taken at one time.The biopsy size 3-6mm and method (punch, shave or wedge) will be done depending on the biologic assay destined for the biopsy. While 3mm will be sufficient for microarray analysis, 6mm will be required for any cell sorting preceding microarray analysis.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Presence of small fiber neuropathy in skin biopsy samples	Presence or absence of small fiber neuropathy obtained after the skin biopsy procedure.	Only one biopsy but analysis may take one year.

Collaborators and Investigators

• Sponsor: Johns Hopkins University

Study record dates

Study Major Dates

• Study Start (ANTICIPATED): December 22, 2023
• Primary Completion (ANTICIPATED): December 31, 2025
• Study Completion (ANTICIPATED): January 31, 2026

Study Registration Dates

• First Submitted: April 30, 2021
• First Submitted That Met QC Criteria: April 30, 2021
• First Posted (ACTUAL): May 4, 2021

Study Record Updates

• Last Update Posted (ACTUAL): February 8, 2023
• Last Update Submitted That Met QC Criteria: February 3, 2023
• Last Verified: February 1, 2023

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neuromuscular Diseases; Peripheral Nervous System Diseases; Small Fiber Neuropathy
• Other Study ID Numbers: IRB00146085

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No