NCT04831164 Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study
| NCT ID | NCT04831164 |
| Status | Recruiting |
| Phase | — |
| Sponsor | University of Michigan |
| Condition | Rotator Cuff Tears |
| Study Type | OBSERVATIONAL |
| Enrollment | 3,500 participants |
| Start Date | 2021-03-04 |
| Primary Completion | 2026-12-31 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 3,500 participants in total. It began in 2021-03-04 with a primary completion date of 2026-12-31.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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. 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.
Eligibility Criteria
Inclusion Criteria: * 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) Exclusion Criteria: * Acute rotator cuff tear caused by a severe trauma
Contact & Investigator
Nitin Jain, MD
PRINCIPAL INVESTIGATOR
University of Michigan
Frequently Asked Questions
Who can join the NCT04831164 clinical trial?
This trial is open to participants of all sexes, aged 40 Years or older, up to 85 Years, studying Rotator Cuff Tears. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT04831164 currently recruiting?
Yes, NCT04831164 is actively recruiting participants. Contact the research team at jainnb@umich.edu for enrollment information.
Where is the NCT04831164 trial being conducted?
This trial is being conducted at Iowa City, United States, Boston, United States, Boston, United States, Boston, United States and 6 additional locations.
Who is sponsoring the NCT04831164 clinical trial?
NCT04831164 is sponsored by University of Michigan. The principal investigator is Nitin Jain, MD at University of Michigan. The trial plans to enroll 3,500 participants.