Genetic Factors Affecting Risks for Rotator Cuff Disease

This study is enrolling participants by invitation only.
Sponsor:
Information provided by (Responsible Party):
Robert Tashjian, University of Utah
ClinicalTrials.gov Identifier:
NCT01193647
First received: August 31, 2010
Last updated: July 25, 2014
Last verified: July 2014
  Purpose

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.


Condition
Studying the Genetic Relationship of Rotator Cuff Tears

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Cross-Sectional
Official Title: Genetic Factors Affecting Risks for Rotator Cuff Disease

Further study details as provided by University of Utah:

Primary Outcome Measures:
  • evaluate the heritability of rotator cuff disease [ Time Frame: 6 years ] [ Designated as safety issue: No ]
    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.


Biospecimen Retention:   Samples With DNA

DNA will be retained


Estimated Enrollment: 400
Study Start Date: July 2009
Estimated Study Completion Date: December 2015
Estimated Primary Completion Date: December 2015 (Final data collection date for primary outcome measure)
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.

  Eligibility

Ages Eligible for Study:   18 Years and older
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   Yes
Sampling Method:   Probability Sample
Study Population

The initial set of study participants for this study will be recruited through the clinical practice of the PI. Patients will be categorized based upon MRI confirmation of a rotator cuff tear. All patients being treated for shoulder pain with a positive MRI for a rotator cuff tear which was performed as a normal part of a clinical exam will be included as possible participants (tear group). All patients being treated for shoulder pain with a negative MRI for rotator cuff tearing (MRI performed for normal part of clinical exam) will undergo an MRI of the opposite shoulder to confirm the absence (or presence) of rotator cuff pathology and be categorized based upon the findings (either tear or no tear group).

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.
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01193647

Locations
United States, Utah
University of Utah Orthopaedic Center
Salt Lake City, Utah, United States, 84108
VA Salt Lake City
Salt Lake City, Utah, United States, 84148
Sponsors and Collaborators
University of Utah
Investigators
Principal Investigator: Robert Z Tashjian, MD University of Utah Orthopaedic Center
  More Information

No publications provided

Responsible Party: Robert Tashjian, M.D., University of Utah
ClinicalTrials.gov Identifier: NCT01193647     History of Changes
Other Study ID Numbers: 29048
Study First Received: August 31, 2010
Last Updated: July 25, 2014
Health Authority: United States: Institutional Review Board

ClinicalTrials.gov processed this record on October 19, 2014