Studying the Genetic Relationship of Rotator Cuff TearsNCT01193647
Genetic Factors Affecting Risks for Rotator Cuff Disease
An observational study of Studying the Genetic Relationship of Rotator Cuff Tears, run by University of Utah at 2 sites in United States.
Trial summary
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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Studying the Genetic Relationship of Rotator Cuff Tears
- How many people
- 400 participants
- Where
- 2 sitesUnited States
- Study dates
- Jul 2009to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
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).
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
2 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States2 sites
University of Utah Orthopaedic Center
Salt Lake City, Utah, 84108
VA Salt Lake City
Salt Lake City, Utah, 84148
About this study
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.
Read the 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.
What is being measured
The primary outcome is the main question the study is designed to answer.
evaluate the heritability of rotator cuff disease
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.
Measured: 6 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Sep 2010 (estimated)
- Study startJul 2009
- Primary completionDec 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Studying the Genetic Relationship of Rotator Cuff TearsStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case only
- Time perspective
- Cross-sectional
- Enrolment
- 400 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Utah
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Robert Tashjian, University of Utah
- Investigators
- Robert Z Tashjian, MD, Principal investigator, University of Utah Orthopaedic Center
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01193647
- Sponsor's protocol ID
- 29048
- Status last verified
- Apr 2026
- First submitted
- 31 Aug 2010
- Last updated
- 6 May 2026
- Results posted
- No
- Data monitoring committee
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 6 May 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Factors Affecting Risks for Rotator Cuff Disease
- ClinicalTrials.gov ID
- NCT01193647
- Acronym / sponsor ID
- 29048
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 400 participants (estimated)
- Lead sponsor
- University of UtahUniversity, hospital or other
- Study start
- Jul 2009
- Primary completion
- Dec 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 2 Sep 2010 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Case only
- Time perspective
- Cross-sectional
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- 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).
Key inclusion criteria (3 listed)
- 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.
Key exclusion criteria (2 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
evaluate the heritability of rotator cuff disease
Time frame: 6 years
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.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 6 May 2026.
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Robert Z Tashjian, MD principal investigator
University of Utah Orthopaedic Center
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Studying the Genetic Relationship of Rotator Cuff Tears, run by University of Utah at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: enrolling by invitation, as of the sponsor's last update on 6 May 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
evaluate the heritability of rotator cuff disease (time frame: 6 years). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 6 May 2026.