Genomic Resources for Enhancing Available Therapies (GREAT1.0) Study

NCT04306939 | Suspended

• 1 other identifier: STUDY19020035
• Study Type: observational
• Target: 120,000
• Locations: 1 country
• Sites: 1

Brief Summary

This is a prospective, descriptive, observational research study designed to observe and document the clinical practice by domain experts, and how the knowledge of new findings that are published in the medical literature affect clinical decision making. The study will evaluate risk factors and co-variants, including genetic variants that are associated with disease progression such as pain, inflammation, organ dysfunction, disability and quality of life.

Conditions

Inflammatory Bowel Diseases; Hepatitis; NASH - Nonalcoholic Steatohepatitis; Acute Pancreatitis; Rheumatoid Arthritis; Diabetes Mellitus; Dyslipidemias; Multiple Sclerosis; Irritable Bowel Syndrome; Chronic Pain; Chronic Disease; Chronic Kidney Diseases; Crohn Disease; Celiac Disease; Biliary Cirrhosis; Bile Acid Synthesis Defect; Gastritis; Cholecystitis; Cholelithiases; Cyst Pancreas; Cystic Fibrosis; Pancreatic Exocrine Insufficiency; Diarrhea Chronic; Constipation - Functional; Constipation Chronic Idiopathic; Chronic Pancreatitis; IPMN

Keywords

fibrosis; chronic inflammation

Outcome Measures

Primary Outcomes (3)

• Define the molecular disorders contributing to clinicopathological disease definitions for common complex disorders

  Diseases are defined by symptoms and pathologic features in specific tissues. The study uses genetic variants associated with disease to define the underlying genes associated with disease, and uses cell biology methods to understand which mechanisms within the specialized cells lead to disease under specific conditions.

  through study completion, an average of 1 year

• Define risk factors for disease progression, severity, complications and poor quality of life.

  Life-style (e.g. alcohol, smoking, diet, exercise), medications, metabolic, genetic and epigenetic factors alter the features of disease. Nested studies, subgroup analysis, stepwise regression, statistical and machine learning will be used to develop disease models where early intervention may alter disease progression and severity.

  through study completion, an average of 1 year

• Common disease mechanisms and repurposing of medications.

  Many chronic diseases, including inflammatory and autoimmune diseases, have similar disease features that arise in different organs. Harmonization of similar disease processes in different organs will be used to increase study power, and to determine if there is evidence that therapeutic interventions for one disease may be effective in another disease, providing evidences to consider drug repurposing and new treatment approaches.

  through study completion, an average of 1 year

Secondary Outcomes (2)

• Pain profile

  through study completion, an average of 1 year

• Patient Reported Global Health Assessment

  through study completion, an average of 1 year

Study Arms (2)

Case/Chronic complex disorders

Chronic complex disorders are composed of multiple population sub classifications - many of which have not been fully defined. Thus, all eligible patients should be included to maximize study power. Sufficient numbers of controls, those individuals in the general population, who may or may not have complex disorders are needed to match future comparison studies for a subset of questions, and so should also be included.

Other: venipuncture; Behavioral: Questionnaires; Other: Additional Sample Collections

Control

The number of controls that are anticipated for this study is less than patient numbers since they will not be needed for calculating the minor allele frequency of the majority of genetic polymorphism of interest in genetic association studies. This data is already available in public and research databases. Controls will be useful for evaluating case report form questions, providing assessment of the local genetic pool, and for possibly participating in future studies as provided by the consent.

Other: venipuncture; Behavioral: Questionnaires; Other: Additional Sample Collections

Interventions

venipuncture OTHER

Research blood collection is also an option via venipuncture if the subject is not scheduled for clinical testing. This will also be limited to 21cc of blood, up to 4 time a year, and with the approval of the attending physician.

Case/Chronic complex disorders; Control

Questionnaires BEHAVIORAL

PROMIS-43 Profile, PROMIS-29 Profile, Global Health Scale and Hospital Anxiety and Depression Scale (HADS). Additional assessments can be approved and administered per specific disease sub-category.

Case/Chronic complex disorders; Control

Additional Sample Collections OTHER

We may also contact subjects to request additional blood, saliva, cheek swab, hair, urine, or stool with their permission. This will be limited to no more than 4 teaspoons of blood and will happen no more than 4 times per year.

Case/Chronic complex disorders; Control

Eligibility Criteria

• Age: 12 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients seen in a UPMC facility with available electronic health records

You may qualify if:

• Case Subjects
• Clinical diagnosis of a chronic disease or disorder (ex. pancreatitis, hepatitis or fatty liver, inflammatory bowel disease, irritable bowel syndrome, diarrhea, constipation, chronic pain syndromes, diabetes, hypertension, cardiovascular disease, chronic kidney disease, chronic neurologic disorders, rheumatological disorders, endocrine disorders, chronic pulmonary diseases, sinorespiratory disorders, chronic skin diseases, cancers and related disorders)
• Ability to read and write in English;
• Ability to provide informed consent
• Control Subjects
• UPMC patients age 12 years without a chronic disorder.

You may not qualify if:

• Chronic infectious disease as the primary medical problem
• Less than 12 years of age
• Inability of the subject to understand the protocol
• Inability to the subject provide informed consent

Sponsors & Collaborators

• University of Pittsburgh: lead

Study Sites (1)

University of Pittsburgh Medical Center

Pittsburgh, Pennsylvania, 15213, United States

Location

Related Publications (1)

• Whitcomb DC. Primer on Precision Medicine for Complex Chronic Disorders. Clin Transl Gastroenterol. 2019 Jul;10(7):e00067. doi: 10.14309/ctg.0000000000000067.

  PMID: 31335357 BACKGROUND

Biospecimen

Retention: SAMPLES WITH DNA

Biological samples will provide functional and mechanistic information about subject health, disease or state. The protocol allows the collection of biological waste, defined as any biological sample that is left over from a laboratory test or procedure such as surgery or endoscopy. Blood sample in addition to waste may be obtained at the time of venipuncture for clinical testing to optimize sample collection for biomarkers that may be affected by delays in clinical testing. An extra 21cc of blood can be accepted, up to 4 time a year, and with the approval of the attending physician Research blood collection is also an option via venipuncture if the subject is not scheduled for clinical testing. This will also be limited to 21cc of blood, up to 4 time a year, and with the approval of the attending physician. Research samples that are non-invasive, such as those from saliva, urine, stool, hair, etc. may also be collected with patient consent.

MeSH Terms

Conditions

Pancreatitis, Chronic; Inflammatory Bowel Diseases; Hepatitis; Non-alcoholic Fatty Liver Disease; Pancreatitis; Arthritis, Rheumatoid; Diabetes Mellitus; Dyslipidemias; Multiple Sclerosis; Irritable Bowel Syndrome; Chronic Pain; Chronic Disease; Renal Insufficiency, Chronic; Crohn Disease; Celiac Disease; Liver Cirrhosis, Biliary; Gastritis; Cholecystitis; Cholelithiasis; Pancreatic Cyst; Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Fibrosis

Interventions

Phlebotomy; Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Pancreatic Diseases; Digestive System Diseases; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Gastroenteritis; Gastrointestinal Diseases; Intestinal Diseases; Liver Diseases; Fatty Liver; Arthritis; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Glucose Metabolism Disorders; Metabolic Diseases; Nutritional and Metabolic Diseases; Endocrine System Diseases; Lipid Metabolism Disorders; Demyelinating Autoimmune Diseases, CNS; Autoimmune Diseases of the Nervous System; Nervous System Diseases; Demyelinating Diseases; Colonic Diseases, Functional; Colonic Diseases; Pain; Neurologic Manifestations; Signs and Symptoms; Renal Insufficiency; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Malabsorption Syndromes; Cholestasis, Intrahepatic; Cholestasis; Bile Duct Diseases; Biliary Tract Diseases; Liver Cirrhosis; Stomach Diseases; Gallbladder Diseases; Cysts; Neoplasms; Lung Diseases; Respiratory Tract Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Infant, Newborn, Diseases

Intervention Hierarchy (Ancestors)

Blood Specimen Collection; Specimen Handling; Clinical Laboratory Techniques; Diagnostic Techniques and Procedures; Diagnosis; Punctures; Therapeutics; Surgical Procedures, Operative; Investigative Techniques; Data Collection; Epidemiologic Methods; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• David C Binion, MD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: December 16, 2019
• First Posted: March 13, 2020
• Study Start: November 1, 2014
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: January 7, 2026

Record last verified: 2026-01

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)