Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders

NCT ID: NCT04872439

Last Updated: 2026-01-07

Basic Information

• Recruitment Status: ACTIVE_NOT_RECRUITING
• Total Enrollment: 300 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2021-04-22
• Study Completion Date: 2026-12-31

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.

Detailed Description

Autoimmune gastrointestinal dysmotility (AGID) represents a subset of autoimmune disorders that affect the motor function of the gastrointestinal tract. It will often result in refractory gastrointestinal symptoms and poor quality of life. Approximately 10% of patients with unexplained gastrointestinal dysmotility diseases have positive serum autoantibodies to peripheral nervous system gangliosides and glycoproteins, which may be suggestive of an autoimmune mechanism targeting the enteric nervous system. The diagnosis is often made clinically in patients with gastrointestinal dysmotility in the context of primary autoimmune disease or a paraneoplastic syndrome. To date, specific diagnostic tests for AGID disorders do not exist. This study will aim to find whether patients with symptomatic autoimmune gastrointestinal dysmotility (AGID) will have a specific antigen and/or antibody causing the symptoms. The study will also aim to find whether patients with positive autoantibody titers will frequently have positive tilt-table testing (autonomic dysfunction).

The goal of this study is to determine the prevalence of autoimmune antibodies in patients presenting with unexplained GI dysmotility and refractory symptoms, and to examine the outcome (safety, tolerability, and clinical improvement) in a pilot cohort of such patients with a serum screening for antigens, antibodies, and validated questionnaires. This will be a prospective pilot study.

Conditions

Autoimmune Gastrointestinal Dysmotility

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: PROSPECTIVE

Study Groups

Antibody isolation, DNA isolation

Patients with GI dysmotility

Blood sample collection

Intervention Type: 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

Interventions

Blood sample collection

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

Intervention Type: DIAGNOSTIC_TEST

Eligibility Criteria

Inclusion Criteria

• 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.

Exclusion Criteria

• 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.

• Minimum Eligible Age: 13 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Johns Hopkins University

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Principal Investigators

Ken J Hui, MD

Role: PRINCIPAL_INVESTIGATOR

Johns Hopkins University

Locations

Johns Hopkins Bayview Medical Center

Baltimore, Maryland, United States

Countries

United States

Other Identifiers

IRB00114555

Identifier Type: -

Identifier Source: org_study_id