Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study

Recruiting now

Conditions studied: Rotator Cuff Tears

In brief

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. Hypothesis: Genetically predicted gene expression of multiple genes in muscle and adipose tissue are associated with rotator cuff tear. 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. Hypothesis: Select SNPs and GRS predict ASES outcome. 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. Hypothesis: Multiple genetic variants are associated with FI and some exert their influence by altering gene expression in the muscle and adipose tissue.

Key facts

Study ID

NCT04831164

Run by

University of Michigan

People needed

3500

Starts

2021-03-04

Expected to finish

2031-12-31

Last updated by the study team

2026-02-10

Who can join

Age: 40 and older, up to 85. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

• University of Iowa — Iowa City, Iowa, United States (enrolling)
• University of Michigan — Ann Arbor, Michigan, United States (enrolling)
• University of Texas Southwestern Medical Center — Dallas, Texas, United States (enrolling)
• Beth Israel Deaconess Medical Center — Boston, Massachusetts, United States
• Parkland Health and Hospital System — Dallas, Texas, United States
• Ohio State University — Columbus, Ohio, United States
• Orthopedic Institute — Sioux Falls, South Dakota, United States
• Vanderbilt University Medical Center — Nashville, Tennessee, United States
• Brigham and Women's Hospital — Boston, Massachusetts, United States
• Boston Medical Center — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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