Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders

NCT04872439 | Active Not Recruiting

• 1 other identifier: IRB00114555
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

Gastrointestinal motility disorders represent a heterogeneous group of neuromuscular diseases of the enteric nervous systems. While autoimmune neuromuscular diseases of the central nervous system (CNS) are well described, the role of autoimmunity in enteric nervous system (ENS) has been less studied. Approximately 10% of patients with unexplained gastrointestinal dysmotility diseases have positive serum autoantibodies to peripheral nervous system proteins, suggesting an autoimmune mechanism targeting the enteric nervous system. The investigator's aim is to identify novel anti neuronal antibodies that contribute to autoimmune gastrointestinal motility disorders by analyzing the serum of patients with abnormal gastrointestinal motility.

Conditions

Autoimmune Gastrointestinal Dysmotility

Outcome Measures

Primary Outcomes (1)

• Antibodies for Autoimmune Gastrointestinal Dysmotility

  Presence or absence of Autoimmune Gastrointestinal Dysmotility specific antibodies.

  Baseline

Study Arms (1)

Antibody isolation, DNA isolation

Patients with GI dysmotility

Diagnostic Test: Blood sample collection

Interventions

Blood sample collection DIAGNOSTIC_TEST

Patients with autoimmune gastrointestinal dysmotility will provide 20 mL of blood to isolate serum, plasma and peripheral blood mononuclear cells for whole exome sequence. Antibodies to be isolated are: Antineuronal nuclear antibody type 1,Collapsing response-mediator family immunoglobulin G, Ganglionic Acetylcholine Receptor Antibody, Muscle Acetylcholine Receptor Antibody, Striational, Voltage-gated calcium channel, N- type, Voltage-gated calcium channel, P/Q- type, Voltage-gated potassium channel, Glutamic Acid Decarboxylase 65, Gastric parietal cell, Thyroperoxidase, Thyroglobulin

Antibody isolation, DNA isolation

Eligibility Criteria

• Age: 13 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with autoimmune gastrointestinal dysmotolity

You may qualify if:

• Males and females \>13 years old.
• Patient referred to the GI Motility clinic for suspected enteric dysmotility based on chronic refractory gastrointestinal symptoms
• English proficiency and literacy sufficient to sign consent.

You may not qualify if:

• Pregnancy documented with a serum or urine pregnancy test. If participants believe that they are pregnant, they will need to notify a study physician who will order a serum or urine test for pregnancy and remove them from the study if the test results come back positive.

Sponsors & Collaborators

• Johns Hopkins University: lead

Study Sites (1)

Johns Hopkins Bayview Medical Center

Baltimore, Maryland, 21224, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Serum isolated from blood, DNA isolated from blood

Study Officials

• Ken J Hui, MD

  Johns Hopkins University

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 30, 2021
• First Posted: May 4, 2021
• Study Start: April 22, 2021
• Primary Completion: December 31, 2025
• Study Completion (Estimated): December 31, 2026
• Last Updated: January 7, 2026

Record last verified: 2026-01

Locations

US (1)