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PI moved to another institution and closed study.
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Autoimmune gastrointestinal dysmotility syndromes are poorly understood, and often difficult to treat because the underlying pathogenesis is unclear. Refractory symptoms result in an impaired quality of life. The presence of positive serum autoantibodies to peripheral nervous system gangliosides and glycoproteins is suggestive of a possible mechanism. Immunomodulator treatments have shown benefit in case reports and case series but standardized data for treatment response is lacking. Therefore, our primary aims are to further characterize this syndrome in terms of symptoms, laboratory testing, pathology, and assess treatment response of immunomodulator therapy. Our research plan involves identifying this subset of patients with autoimmune gastrointestinal dysmotility and dysautonomia, and studying them as they are managed by their gastroenterologists.The study team will administer symptom-based questionnaires in a systematic manner to assess the clinical trajectory of this population and treatment response. The investigators will also analyze laboratory values (antibody titers, tilt testing, inflammatory markers) and study pathology specimens (enteric and skin biopsies) obtained from this cohort to gain a deeper understanding of the pathogenesis of their disease.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Patients with autoimmune dysmotility receiving IVIG infusions |
| ||
| Patients with autoimmune dysmotility without IVIG infusions |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Current Intravenous Immunoglobulin (IVIG) treatment | Other | Questionnaires every two months for patients with a diagnosis of autoimmune dysmotility that are receiving Intravenous Immunoglobulin (IVIG) treatment. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in upper gastrointestinal symptom severity as assessed by the Patient Assessment of Gastrointestinal Disorders-Symptom Severity Index | The Patient Assessment of Gastrointestinal Disorders-Symptom Severity Index (PAGI-SYM) is composed of 20 items and 6 sub-scales: heartburn/regurgitation (7 items), nausea/vomiting (3 items), postprandial fullness/early satiety (4 items), bloating (2 items), upper abdominal pain (2 items), and lower abdominal pain (2 items). Sub-scale scores are calculated by averaging across items comprising the sub-scale; scores vary from 0 (none or absent) to 5 (very severe). | Every two months up to 2 years. |
| Measure | Description | Time Frame |
|---|---|---|
| Change in Quality of Life as assessed by the Patient Assessment of Upper Gastrointestinal Disorders-Quality of Life scale | The effect of Autoimmune Dysmotility symptoms on quality of life assessed by the Patient Assessment of Upper Gastrointestinal Disorders-Quality of Life (PAGI-QoL). The PAGI-QOL instrument consists of 30 items, each with response options based on a 6-point scale and with a recall period of the previous 2 weeks. The items are grouped into 5 dimensions: Daily Activities, Clothing, Diet and Food Habits, Relationship and Psychological Well-being and Distress. A score per dimension as well as a total score can be calculated. The PAGI-QOL scores range from 0 (lowest QoL) to 5 (highest QoL). |
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Inclusion Criteria:
Exclusion Criteria:
Non-autoimmune causes of enteric dysmotility (diabetes, adrenal insufficiency, Parkinson's, thyroid, electrolytes, drugs, malignancy).
Pregnancy as documented in EPIC with serum or urine Human chorionic gonadotropin (hCG) testing
Previous treatment with IVIg.
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Patients with autoimmune autonomic ganglionopathy (AAG) or autoimmune autonomic neuropathy. Postural orthostatic tachycardia syndrome (POTS) and gastrointestinal (GI) dysmotility.
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| Name | Affiliation | Role |
|---|---|---|
| Pankaj J Pasricha, MD | Johns Hopkins University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Johns Hopkins Bayview Medical Center | Baltimore | Maryland | 21224 | United States |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 38912927 | Derived | Pasricha PJ, McKnight M, Villatoro L, Barahona G, Brinker J, Hui K, Polydefkis M, Burns R, McMahan ZH, Gould N, Goodman B, Hentz J, Treisman G. Joint Hypermobility, Autonomic Dysfunction, Gastrointestinal Dysfunction, and Autoimmune Markers: Clinical Associations and Response to Intravenous Immunoglobulin Therapy. Am J Gastroenterol. 2024 Nov 1;119(11):2298-2306. doi: 10.14309/ajg.0000000000002910. Epub 2024 Jun 24. |
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| ID | Term |
|---|---|
| D002925 | Ciliary Motility Disorders |
| D001327 | Autoimmune Diseases |
| ID | Term |
|---|---|
| D012140 | Respiratory Tract Diseases |
| D010038 | Otorhinolaryngologic Diseases |
| D000072661 | Ciliopathies |
| D000015 | Abnormalities, Multiple |
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| ID | Term |
|---|---|
| D016756 | Immunoglobulins, Intravenous |
| D013812 | Therapeutics |
| ID | Term |
|---|---|
| D007074 | Immunoglobulin G |
| D007132 | Immunoglobulin Isotypes |
| D000906 | Antibodies |
| D007136 | Immunoglobulins |
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| No Intravenous Immunoglobulin (IVIG) treatment | Other | Questionnaires every two months for patients with a diagnosis of autoimmune dismotility that are not receiving Intravenous Immunoglobulin (IVIG) treatment. |
|
| Every two months up to 2 years. |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D007154 | Immune System Diseases |
| D007162 |
| Immunoproteins |
| D001798 | Blood Proteins |
| D011506 | Proteins |
| D000602 | Amino Acids, Peptides, and Proteins |
| D012712 | Serum Globulins |
| D005916 | Globulins |