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

Suspended
Conditions
Chronic Pancreatitis
Irritable Bowel Syndrome
Chronic Kidney Diseases
Crohn Disease
Celiac Disease
Cystic Fibrosis
Diarrhea Chronic
Constipation - Functional
Inflammatory Bowel Diseases
Diabetes Mellitus
Registration Number
NCT04306939
Lead Sponsor
University of Pittsburgh
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.

Detailed Description

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.

Recruitment & Eligibility

Status
SUSPENDED
Sex
All
Target Recruitment
120000
Inclusion Criteria

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.

Exclusion Criteria
  • 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

Study & Design

Study Type
OBSERVATIONAL
Study Design
Not specified
Primary Outcome Measures
NameTimeMethod
Common disease mechanisms and repurposing of medications.through study completion, an average of 1 year

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.

Define the molecular disorders contributing to clinicopathological disease definitions for common complex disordersthrough study completion, an average of 1 year

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.

Define risk factors for disease progression, severity, complications and poor quality of life.through study completion, an average of 1 year

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.

Secondary Outcome Measures
NameTimeMethod
Pain profilethrough study completion, an average of 1 year

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.

Patient Reported Global Health Assessmentthrough study completion, an average of 1 year

PROMIS29 It is a comprehensive measure in that it is assessing multiple aspects of mental, physical, and social health.

Trial Locations

Locations (1)

University of Pittsburgh Medical Center

🇺🇸

Pittsburgh, Pennsylvania, United States

University of Pittsburgh Medical Center
🇺🇸Pittsburgh, Pennsylvania, United States

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