Genetic Factors Affecting Risks for Rotator Cuff Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: Studying the Genetic Relationship of Rotator Cuff Tears. Basic parameters: from 18 years · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- United States
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Overview
This study will begin to evaluate the heritability of rotator cuff disease, and begin creation of a powerful resource for future genetic studies of rotator cuff disease.
Detailed description
Aim 1. We will recruit and study all patients of the PI who undergo MRI for shoulder complaints. The PI is a shoulder and elbow surgeon and treats a variety of shoulder and non-shoulder pathology. All patients agreeing to participate will undergo a history, physical examination of the shoulder, recording of demographics, family history, genealogy, and risk factors. All participants will provide a blood or saliva sample. Serum and DNA will be stored at the University of Utah for future analysis. Based upon the results of MRI, patients will be categorized based on the presence or absence or rotator cuff tearing. We hope to extend to hospital-wide ascertainment eventually. All patients will be asked if they have known cases of shoulder disorders in their family members. Patients will have the option of sharing their living family members name and contact information with the research team, so we can contact them and invite them to the study.
Aim 2. From this DNA bio-repository, we will begin to describe the familial nature of rotator cuff disease and the characteristics related to increased risk. We will also begin ascertainment and sampling of high-risk individuals and pedigrees, perform association studies to identify risk-associated variants, and screen candidate genes as funding is available.
Aim 3: Utilizing the Utah Population Database (UPDB), we will also define high risk pedigrees within the cohort of individuals with rotator cuff tears. We will also use the database to identify high risk pedigrees by examining the information on family members of patients of with tears to identify high risk pedigrees as well. The RGE has already approved the use of the UPDB for these purposes.
Aim 4: Use UUHSC medical records linked to the UPDB to define the heritable nature of rotator cuff injury and other tendonopathies.
Aim 5: Determine ABO frequencies for patients with rotator cuff tears and compare to population normals utilizing the UPDB.
Aim 6: Use UUHSC medical records linked to the UPDB to define the heritable nature of rotator cuff injury and compression neuropathies.
Aim 7: Query the UUHSC EDW for rotator cuff repair codes and obtain the ABO blood typing for these patients. We will also obtain operative room reports, names and MRN numbers for these patients to ensure there aren't duplications between already enrolled patients and UUHSC EDW findings.
Primary outcome measures
- evaluate the heritability of rotator cuff disease [Time frame: 6 years]
Eligibility criteria
Inclusion criteria
- Includes any patient who has had a shoulder MRI performed to evaluate shoulder pain as part of a standard clinical exam.
- All first degree relatives of patients with documented rotator cuff tearing will also be possible study participants.
- All patients of Drs. Tashjian, Burks and Greis who have undergone surgical rotator cuff repair.
Exclusion criteria
- Exclude any patient who has undergone prior shoulder surgery besides surgery performed by the PI where accurate information, including MRI data exist, regarding the presence or absence of rotator cuff tearing before the surgery.
- Any patient who is pregnant.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-only
Study locations
United States · 2 centers
- University of Utah Orthopaedic Center — Salt Lake City
- VA Salt Lake City — Salt Lake City
Identifiers
NCT: NCT01193647 · 29048