Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study (NCT04831164)
🩺 Plain-English Summary (8th-Grade Level)
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.
Who can join: Review the eligibility criteria below.
Location: University of Iowa — Iowa City, Iowa
Age range: 40 Years to 85 Years
🧪 Interventions in This Study
- NA (not an interventional study) (OTHER)
📋 "Do I Qualify?" — 1-Minute Self Screener
Instant ChecklistFull eligibility criteria are available on the official NIH protocol. View the criteria ↗
📍 All Participating Trial Locations (10 Sites)
- University of Iowa — Iowa City, Iowa
- Brigham and Women's Hospital — Boston, Massachusetts
- Boston Medical Center — Boston, Massachusetts
- Beth Israel Deaconess Medical Center — Boston, Massachusetts
- University of Michigan — Ann Arbor, Michigan
- Ohio State University — Columbus, Ohio
- Orthopedic Institute — Sioux Falls, South Dakota
- Vanderbilt University Medical Center — Nashville, Tennessee
- Parkland Health and Hospital System — Dallas, Texas
- University of Texas Southwestern Medical Center — Dallas, Texas
📞 Contact the Study Coordinator
Phone: (734) 936-8178
Email: jainnb@umich.edu
Coordinator details come directly from the registered NIH protocol. Confirm the study is still recruiting before traveling.
💰 Cost, Insurance & Patient Rights
- 100% Free Items: The investigational treatment and protocol-required procedures are supplied at zero cost by the sponsor.
- Routine Patient Care: Under federal law (ACA § 2709) and many state statutes, routine care costs are covered during participation.
- Voluntary Participation: You may withdraw at any time without affecting your standard medical care.
More studies in Rotator Cuff Tears
- E-CEL UVEC Cells as an Adjunct Cell Therapy for the Arthroscopic Rotator Cuff Repair in Adults — New York, New York
- Variation in Humeral Head Bone Marrow Characteristics With Rotator Cuff Repair Healing — Cleveland, Ohio
- Use of Extended Release Triamcinolone in the Treatment of Rotator Cuff Disease — Great Neck, New York
- Shoulder iD™ Primary Reversed Glenoid Outcomes Clinical Study — San Francisco, California
- MRI Evaluation of Integrity Implant for Rotator Cuff Tears — Tampa, Florida
- Maximal Repair Versus Bridging Reconstruction with BioBrace® — Halifax, Nova Scotia
Explore by condition: All Rotator Cuff Tears clinical trials
💡 How to Participate
- Check the checklist above to see if you may qualify.
- Contact the study coordinator using the phone/email above.
- Ask about the visit schedule, what is covered at no cost, and any travel support.
- Confirm with your own doctor before making a decision.