Genetic Epidemiology of Rotator Cuff Tears: The cuffGEN Study

Part of paid clinical trials in Iowa City, Iowa.

Sponsor
University of Michigan
Study ID
NCT04831164
Status
Recruiting
Apply to this trial

Conditions

  • Rotator Cuff Tears

Eligibility Criteria

Sex
ALL
Age
40 Years - 85 Years
Healthy Volunteers
Not accepted

Interventions

  • NA (not an interventional study) — OTHER
    (not an interventional study)

Study Details

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 Dates

Start date
Mar 4, 2021
Status verified
Feb 2026
Primary completion
Dec 31, 2026
Completion
Dec 31, 2031

Study Design

Enrollment
3,500 participants (estimated)

Arms

  • Arm: Case
    Patients with MRI confirmed rotator cuff tears
  • Arm: Control
    Patients without rotator cuff tears

Primary Outcome Measure

Genome wide association meta-analysis of cases and controls [ Time Frame: 10 years ]

Central Contacts

Locations (10)

FacilityCityStateZIPSite coordinators
University of IowaIowa CityIowa52242
Brian R Wolf, MD
[email protected]
Beth Israel Deaconess Medical CenterBostonMassachusetts02215-
Boston Medical CenterBostonMassachusetts02118-
Brigham and Women's HospitalBostonMassachusetts02115-
University of MichiganAnn ArborMichigan48108
Nitin Jain, MD
[email protected]
734-936-8178
Ohio State UniversityColumbusOhio43202
Gregory Cvetanovich, MD
Orthopedic InstituteSioux FallsSouth Dakota57117-
Vanderbilt University Medical CenterNashvilleTennessee37232-
Parkland Health and Hospital SystemDallasTexas75390-
University of Texas Southwestern Medical CenterDallasTexas75390
Michael Khazzam, MD
[email protected]
214-645-8917

Find similar trials in Iowa City, IA

By research site
University of Iowa· Iowa City, IABeth Israel Deaconess Medical Center· Boston, MABoston Medical Center· Boston, MABrigham and Women's Hospital· Boston, MAUniversity of Michigan· Ann Arbor, MIOhio State University· Columbus, OH

Related Studies