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Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders
Sponsor: Johns Hopkins University
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.
Key Details
Gender
All
Age Range
13 Years - Any
Study Type
OBSERVATIONAL
Enrollment
300
Start Date
2021-04-22
Completion Date
2026-12-31
Last Updated
2026-01-07
Healthy Volunteers
No
Conditions
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
Locations (1)
Johns Hopkins Bayview Medical Center
Baltimore, Maryland, United States