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

Study Overview

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

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.

The Genomic Resource to Enhance Available Therapies (GREAT1.0) Study is a research program for personalized medicine. It is a highly annotated genetic and biosample resource for multiple nested observational cohort studies. It is designed to begin to understand the mechanisms underlying complex diseases using clinical information from the UPMC electronic health record (EHR), from case-report forms, and from biological samples. Aim 1. To test the hypothesis that point-of-care electronic health record (EHR)-based phenotyping and clinical measures will be useful for classifying patient by disease risk, subtype, activity, complications, quality of life or using statistical or systems approaches. Aim 2. To test the hypothesis that common diseases can be subtyped using genotype data. Aim 3. To test the hypothesis biological samples will provide additional functional and mechanistic information about subject health, disease or state. The study will be conducted using UPMC patients and population controls. Consent will allow EHR and/or case report form data, plus biological samples to be given a unique code number and transferred to researchers for analysis. Consent will also allow for a secure link to be maintained allowing the research data or samples to be updated, and to contact the clinical team and/or subject to provide them with additional information.

Chronic Pancreatitis
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
IPMN
Cyst Pancreas
Cystic Fibrosis
Pancreatic Exocrine Insufficiency
Diarrhea Chronic
Constipation - Functional
Constipation Chronic Idiopathic

OTHER: venipuncture
BEHAVIORAL: Questionnaires
OTHER: Additional Sample Collections

STUDY19020035

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates	Results Reporting Dates	Study Record Updates
First Submitted 2019-12-16	Results First Submitted N/A	Last Update Submitted that met QC Criteria 2025-06-23
First Submitted that Met QC Criteria 2020-03-10	Results First Submitted that Met QC Criteria N/A	Last Update Posted (ACTUAL) 2025-06-27
First Posted (ACTUAL) 2020-03-13	Results First Posted N/A	Last Verified 2025-06

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

Design Details

Primary Purpose:
N/A

Allocation:
N/A

Interventional Model:
N/A

Masking:
N/A

Arms and Interventions

Participant Group/Arm	Intervention/Treatment
: 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	OTHER: venipuncture 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. BEHAVIORAL: Questionnaires 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. OTHER: Additional Sample Collections 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.
: 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	OTHER: venipuncture 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. BEHAVIORAL: Questionnaires 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. OTHER: Additional Sample Collections 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.

Participant Group/Arm

Intervention/Treatment

: 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

OTHER: venipuncture

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.

BEHAVIORAL: Questionnaires

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.

OTHER: Additional Sample Collections

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.

: 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

OTHER: venipuncture

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.

BEHAVIORAL: Questionnaires

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.

OTHER: Additional Sample Collections

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.

Primary Outcome Measures	Measure Description	Time Frame
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 Outcome Measures	Measure Description	Time Frame
Pain profile	Pain is measured using visual analogue scales, pain quality, pattern and interference using standardized questionnaires. Patients with similar disease stages and severity often have markedly different levels of pain. Validated tools will be used to observe responses to disease treatments between similar patients, and to observe factors that may be targetable to lessen pain in future intervention studies.	through study completion, an average of 1 year
Patient Reported Global Health Assessment	PROMIS29 It is a comprehensive measure in that it is assessing multiple aspects of mental, physical, and social health.	through study completion, an average of 1 year

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person’s general health condition or prior treatments.

Ages Eligible for Study:
ALL

Sexes Eligible for Study:
12 Years

Accepts Healthy Volunteers:
1

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

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

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Investigators

PRINCIPAL_INVESTIGATOR: David C Binion, MD, University of Pittsburgh

Publications

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

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

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Clinical Trial Record