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. Our 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.
- Study Type: Observational
- Study Design
- Time Perspective: Prospective
- Study Primary Completion Date: December 31, 2023
- Diagnostic Test: 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
Arms, Groups and Cohorts
- Antibody isolation
Clinical Trial Outcome Measures
- Antibodies for Autoimmune Gastrointestinal Dysmotility
- Time Frame: Single time
- Presence or absence of Autoimmune Gastrointestinal Dysmotility specific antibodies.
Participating in This Clinical Trial
- 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.
Gender Eligibility: All
Minimum Age: 13 Years
Maximum Age: N/A
Are Healthy Volunteers Accepted: No
- Lead Sponsor
- Johns Hopkins University
- Provider of Information About this Clinical Study
- Overall Official(s)
- Pankaj J Pasricha, MD, Principal Investigator, Johns Hopkins University
- Overall Contact(s)
- Pankaj J Pasricha, MD, 410-550-1793, firstname.lastname@example.org
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