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| Name | Class |
|---|---|
| National Institutes of Health (NIH) | NIH |
| Chan Zuckerberg Biohub | OTHER |
| The Brain Research Foundation | OTHER |
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The purpose of this study is to ascertain the functional profiles of the immune cells within the gastrointestinal tract and to determine how these cells contribute to autoimmune and neurologic diseases.
Immune cells and microbes within the GI tract likely play an important role for neurologic disease pathogenesis, including MS and Parkinson's disease. Nevertheless, these immune cells have never been studied in detail using modern single cell technologies. Moreover, most of the human microbiome work done in this space to date has utilized fecal samples, but different anatomic niches within the gut may have greater importance for disease. This study will provide seminal information about how the relationships between gut immunity and neurologic/autoimmune diseases and may be paradigm shifting in regards to how the pathogenesis of some neurologic diseases is viewed.
This is an observational cohort study. Individuals undergoing colonoscopy (+/- upper endoscopy) as a part of standard of care or who consent to have a colonoscopy (+/- upper endoscopy) will be recruited to provide tissue biopsies obtained from the gastrointestinal mucosa. The rationale for including those who are not yet due to have a screening colonoscopy is that for many neurologic diseases (like MS), the disease onset is in adolescence or early adulthood, and the disease is diagnosed in young adults. These individuals would not yet be due to have screening colonoscopies, and yet changes in immune cells within the intestines may be a critical part of disease pathogenesis. This is what the investigators are exploring with this study.
The investigators will need to recruit age matched healthy controls because many features of the immune system change with age; as people get older, the immune system becomes less inflammatory ("immune senescence") and thus it is essential to have age-matched tissues for comparison.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Healthy Individuals |
| ||
| Individuals with neurologic diseases |
| ||
| Individuals with known or suspected autoimmune diseases |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Colon Tissue Biopsy | Procedure | Colonoscopy and colon tissue biopsy. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Characterization of immune cells from the gastrointestinal mucosa | Gastrointestinal mucosa cells will be characterized using sRNA measured through high-throughput sequencing with quantitative polymerase chain reaction (qPCR) validation. | Through study completion, an average of 5 years |
| Measure | Description | Time Frame |
|---|---|---|
| Evaluate spatial transcriptomics of intestinal tissue | Spatial transcriptomics will be performed on gut mucosal biopsies | Through study completion, an average of 5 years |
| Characterize the microbiome at different anatomic sites within the gastrointestinal tract |
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Inclusion Criteria:
ONE of the following:
Exclusion Criteria:
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Study participants will be individuals who are having screening colonoscopies (+/- upper endoscopies) and those who are willing to have these procedure/s performed for research, and who are willing to donate tissue for research. Healthy individuals, individuals with neurologic diseases, and individuals with known or suspected autoimmune diseases will all be candidates to participate
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Cynthia Marques | Contact | 2032876100 | cynthia.marques@yale.edu | |
| Dimitri Duvilaire | Contact | 2032876100 | dimitri.duvilaire@yale.edu |
| Name | Affiliation | Role |
|---|---|---|
| Erin Longbrake | Yale University | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Yale MS Clinic | Recruiting | North Haven | Connecticut | 06473 | United States |
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| ID | Term |
|---|---|
| D009103 | Multiple Sclerosis |
| D010300 | Parkinson Disease |
| D020187 | REM Sleep Behavior Disorder |
| ID | Term |
|---|---|
| D020278 | Demyelinating Autoimmune Diseases, CNS |
| D020274 | Autoimmune Diseases of the Nervous System |
| D009422 | Nervous System Diseases |
| D003711 | Demyelinating Diseases |
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Colon biopsies blood
16S and/or shotgun metagenomic sequencing will be utilized to assess the composition of gut microbiome |
| Through study completion, an average of 5 years |
| D001327 | Autoimmune Diseases |
| D007154 | Immune System Diseases |
| D020734 | Parkinsonian Disorders |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009069 | Movement Disorders |
| D000080874 | Synucleinopathies |
| D019636 | Neurodegenerative Diseases |
| D020923 | REM Sleep Parasomnias |
| D020447 | Parasomnias |
| D012893 | Sleep Wake Disorders |
| D001523 | Mental Disorders |