Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study
Public ClinicalTrials.gov record NCT04831164. Field values are reproduced from the official study page; the official ClinicalTrials.gov record remains the source of truth for eligibility, enrollment, and contact information.
Data is sourced from official ClinicalTrials.gov public API records. Always review the official ClinicalTrials.gov record for the latest information.
Brief summary
Reproduced verbatim from the official ClinicalTrials.gov record. Not medical advice.
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.
Study identification
- NCT ID
- NCT04831164
- Recruitment status
- Recruiting
- Study type
- Observational
- Phase
- Not listed
- Enrollment
- 3,500 participants
Conditions and interventions
Conditions
Eligibility (public fields only)
- Age range
- 40 Years to 85 Years
- Sex
- All
- Healthy volunteers
- Healthy volunteers not accepted
This page does not interpret eligibility. Detailed inclusion and exclusion criteria are on the official ClinicalTrials.gov record.
Study timeline
- Start date
- Mar 3, 2021
- Primary completion
- Dec 30, 2026
- Completion
- Dec 30, 2031
- Last update posted
- Feb 9, 2026
2021 – 2031
United States locations
- U.S. sites
- 10
- U.S. states
- 7
- U.S. cities
- 7
| Facility | City | State | ZIP | Site status |
|---|---|---|---|---|
| University of Iowa | Iowa City | Iowa | 52242 | Recruiting |
| Brigham and Women's Hospital | Boston | Massachusetts | 02115 | Completed |
| Boston Medical Center | Boston | Massachusetts | 02118 | Completed |
| Beth Israel Deaconess Medical Center | Boston | Massachusetts | 02215 | Completed |
| University of Michigan | Ann Arbor | Michigan | 48108 | Recruiting |
| Ohio State University | Columbus | Ohio | 43202 | Not yet recruiting |
| Orthopedic Institute | Sioux Falls | South Dakota | 57117 | Completed |
| Vanderbilt University Medical Center | Nashville | Tennessee | 37232 | Completed |
| Parkland Health and Hospital System | Dallas | Texas | 75390 | Completed |
| University of Texas Southwestern Medical Center | Dallas | Texas | 75390 | Recruiting |
Site contact phone numbers, emails, and investigator names are intentionally not displayed here. Open the official ClinicalTrials.gov record for site contact information.
About this trial record page
- What this page shows
- Public field values for ClinicalTrials.gov record NCT04831164, including study identification, conditions, interventions, eligibility (age, sex, healthy volunteer), timeline, and U.S. site list.
- What this page does not do
- No medical advice, eligibility judgments, treatment recommendations, study quality scoring, or AI-generated medical summaries. No site contact phone numbers, emails, or investigator names.
- Where the data comes from
- Sourced from the official ClinicalTrials.gov public API. The official record is the source of truth.
- Last refresh
- Last update posted Feb 9, 2026 · Synced Sep 9, 2026
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Open the official record
The complete protocol, eligibility criteria, and contact information for NCT04831164 live on ClinicalTrials.gov.