Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study
2 other identifiers
observational
3,500
1 country
10
Brief Summary
Rotator cuff tear is one of the most common reasons to seek musculoskeletal care, and cuff repair is one of the fastest growing ambulatory surgery procedures. However, the etiology of cuff tears, reasons for variability treatment success, and causes of FI are poorly understood. A large-scale genome-wide association studies (GWAS) using imaging-verified rotator cuff tear cases and controls can address limitations in rigor of prior research and assess the genetic basis of FI and functional outcomes of cuff tear treatments. Primary Objective: To conduct a case-control GWAS of imaging-verified symptomatic rotator cuff tear in approximately 3000-6000 individuals and replicate findings in an independent set of 3000-6000 or more imaging-verified individuals to identify common variants in several genetic loci that increase risk for rotator cuff tears. Hypothesis: Common variants in several genetic loci increase risk for rotator cuff tears. Secondary Objectives:
- 1.To perform an imputed transcriptome-wide association study (TWAS) to identify and prioritize gene targets associated with rotator cuff tear by integrating GWAS summary statistics and gene-expression weights from muscle and adipose tissue available in the GTEx project.
- 2.To identify if single nucleotide polymorphisms (SNPs) associated with rotator cuff tear and their genetic risk score (GRS) predict improved pain and function as measured by American Shoulder and Elbow Surgeons Standardized Form (ASES) and other outcome measures.
- 3.To identify genetic variants associated with Fatty Infiltration (FI) in patients with cuff tears in a two stage GWAS of imaged rotator cuffs and to prioritize gene targets through an imputed-TWAS in muscle and adipose tissue.
Trial Health
Trial Health Score
Automated assessment based on enrollment pace, timeline, and geographic reach
participants targeted
Target at P75+ for all trials
Started Mar 2021
Longer than P75 for all trials
10 active sites
Health score is calculated from publicly available data and should be used for screening purposes only.
Trial Relationships
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Study Timeline
Key milestones and dates
Study Start
First participant enrolled
March 4, 2021
CompletedFirst Submitted
Initial submission to the registry
March 31, 2021
CompletedFirst Posted
Study publicly available on registry
April 5, 2021
CompletedPrimary Completion
Last participant's last visit for primary outcome
December 31, 2026
ExpectedStudy Completion
Last participant's last visit for all outcomes
December 31, 2031
February 10, 2026
February 1, 2026
5.8 years
March 31, 2021
February 5, 2026
Conditions
Keywords
Outcome Measures
Primary Outcomes (1)
Genome wide association meta-analysis of cases and controls
Discovery of targeted variants in MRI verified cases and controls
10 years
Study Arms (2)
Case
Patients with MRI confirmed rotator cuff tears
Control
Patients without rotator cuff tears
Interventions
Eligibility Criteria
Adults with MRI confirmed rotator cuff tears or absence of tears will be approached to be recruited for the study.
You may qualify if:
- Aged ≥40 years to \< 85 years
- Confirmed diagnosis of partial or full-thickness cuff tear on MRI (Cases) OR absence of rotator cuff tear on shoulder MRI (Controls)
- Ability and willingness to provide informed consent
- Ability to complete questionnaires in English (to maintain scientific integrity since standardized questionnaires are extensively validated in English)
You may not qualify if:
- Acute rotator cuff tear caused by a severe trauma
Contact the study team to confirm eligibility.
Sponsors & Collaborators
Study Sites (10)
University of Iowa
Iowa City, Iowa, 52242, United States
Brigham and Women's Hospital
Boston, Massachusetts, 02115, United States
Boston Medical Center
Boston, Massachusetts, 02118, United States
Beth Israel Deaconess Medical Center
Boston, Massachusetts, 02215, United States
University of Michigan
Ann Arbor, Michigan, 48108, United States
Ohio State University
Columbus, Ohio, 43202, United States
Orthopedic Institute
Sioux Falls, South Dakota, 57117, United States
Vanderbilt University Medical Center
Nashville, Tennessee, 37232, United States
Parkland Health and Hospital System
Dallas, Texas, 75390, United States
University of Texas Southwestern Medical Center
Dallas, Texas, 75390, United States
Biospecimen
Saliva and other tissue samples including blood, urine, muscle, cartilage, bone and tendon will be collected from participants.
MeSH Terms
Conditions
Interventions
Condition Hierarchy (Ancestors)
Intervention Hierarchy (Ancestors)
Study Officials
- PRINCIPAL INVESTIGATOR
Nitin Jain, MD
University of Michigan
Central Study Contacts
Study Design
- Study Type
- observational
- Observational Model
- CASE CONTROL
- Time Perspective
- OTHER
- Sponsor Type
- OTHER
- Responsible Party
- PRINCIPAL INVESTIGATOR
- PI Title
- Professor of Physical Medicine & Rehabilitation, and Orthopaedics
Study Record Dates
First Submitted
March 31, 2021
First Posted
April 5, 2021
Study Start
March 4, 2021
Primary Completion (Estimated)
December 31, 2026
Study Completion (Estimated)
December 31, 2031
Last Updated
February 10, 2026
Record last verified: 2026-02