Clinical trial NCT04872439: Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders
Official title: Novel Antineuronal Antibodies in Gastrointestinal Motility Disorders
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
Conditions: Autoimmune Gastrointestinal Dysmotility
Lead sponsor: Johns Hopkins University
Sponsor class: OTHER
First posted: 2021-05-04
Enrollment: 300
Sex: ALL
Minimum age (years): 13
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Patients with autoimmune gastrointestinal dysmotolity

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.

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.

Primary outcomes:
measure: Antibodies for Autoimmune Gastrointestinal Dysmotility
timeFrame: Baseline
Secondary outcomes:
Other outcomes:
Locations:
city: Baltimore
country: United States
facility: Johns Hopkins Bayview Medical Center
state: Maryland
Study officials:
affiliation: Johns Hopkins University
name: Ken J Hui, MD
role: PRINCIPAL_INVESTIGATOR
References: