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Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study
NCT04831164 · View on ClinicalTrials.gov ↗
Study 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. 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 a
Conditions Studied
Interventions
- OTHER NA (not an interventional study)
Study Locations (10)
Massachusetts
- Brigham and Women's Hospital — Boston
- Boston Medical Center — Boston
- Beth Israel Deaconess Medical Center — Boston
Texas
- Parkland Health and Hospital System — Dallas
- University of Texas Southwestern Medical Center — Dallas
Iowa
- University of Iowa — Iowa City
Michigan
- University of Michigan — Ann Arbor
Ohio
- Ohio State University — Columbus
South Dakota
- Orthopedic Institute — Sioux Falls
Tennessee
- Vanderbilt University Medical Center — Nashville
Trial Details
| Field | Value |
|---|---|
| Enrollment Target | 3,500 participants |
| Start Date | 2021-03-04 |
| Est. Completion | 2031-12-31 |
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Full Details on ClinicalTrials.gov ↗What the Registry Record Tells You About NCT04831164
The ClinicalTrials.gov registry entry for NCT04831164 describes a study currently listed as recruiting. It is categorized as an unspecified phase, which is the standard way researchers label where a study sits along the investigational pathway from early safety work through later efficacy and post-marketing evaluation. The registered enrollment target is 3,500 participants, a figure that helps gauge the scale of data the investigators plan to collect. The listed sponsor is University of Michigan, which has 1,126 total studies on file at ClinicalTrials.gov, and sponsors are the parties responsible for study design, oversight, and regulatory filings.
The record links to 1 condition, with Rotator Cuff Tears appearing as the primary indexed condition, and to 1 intervention — of which NA (not an interventional study) is the first listed. Interventions can include drugs, devices, procedures, behavioral programs, or observational arms, and each is tracked as a separate registry field so that downstream queries can filter accurately. When a trial lists multiple interventions, it usually reflects a multi-arm design or a comparison protocol rather than a single treatment being tested in isolation. The brief summary published in the registry is the clearest source of protocol intent and should be read before drawing conclusions from any sidebar tags.
Geographic footprint matters for practical reasons: NCT04831164 reports 10 study locations spanning 7 distinct geographic areas — top geographies include Massachusetts, Texas, Iowa. A larger site network tends to correlate with broader recruitment capacity, but it does not imply anything about study quality, and site-level enrollment status can diverge from the overall registry status shown above. Every data point on this page comes from the public ClinicalTrials.gov dataset and is reproduced here for reference only; it is not a medical recommendation, an endorsement of the sponsor, or an invitation to enroll. Verify current status, eligibility criteria, and contact details directly at ClinicalTrials.gov, and discuss any participation decision with your own healthcare provider.
Frequently Asked Questions
What is clinical trial NCT04831164 about?
NCT04831164 is a clinical study titled "Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study". 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-...
What is the current status of trial NCT04831164?
This trial is currently recruiting. The enrollment target is 3,500 participants. The study started on 2021-03-04. Estimated completion is 2031-12-31.
What conditions does trial NCT04831164 study?
This clinical trial studies the following conditions: Rotator Cuff Tears. These conditions were identified from the trial registry and reflect the primary focus areas of the research.
What interventions are being tested in trial NCT04831164?
The interventions under investigation include: NA (not an interventional study) (OTHER). Each intervention is being evaluated for safety and efficacy as part of this clinical study.
Who is sponsoring clinical trial NCT04831164?
This trial is sponsored by University of Michigan, which has 1,126 total clinical trials registered on ClinicalTrials.gov. The sponsor is responsible for the study's design, funding, and regulatory compliance.
Where is trial NCT04831164 being conducted?
This trial has 10 study locations across Iowa, Massachusetts, Michigan, Ohio, South Dakota. Contact the study sites directly through ClinicalTrials.gov for enrollment availability.
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