Muscle DisorderNCT01166854
Characterization of Familial Myopathy and Paget Disease of Bone
An observational study of Muscle Disorder and Bone Disorder, run by University of California, Irvine at 1 site in United States.
Trial summary
The researcher wants to explore the genetic causes of muscle disease. The researcher is particularly interested in muscle disorders that occur in combination with diseases of bone that appear to be passed on from generation to generation. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Muscle Disorder, Bone Disorder
- What is being tested?
- Diffuse Optical Spectroscopy
- Type of treatment
- Medical device
- How many people
- 25 participants
- Where
- 1 siteUnited States
- Study dates
- 18 Jun 2010to Jun 2030
- 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
- No healthy volunteers
- Adult, Older adult
Study population: Study Population will be selected from Dr. Kimonis outpatient clinic at University of California Irvine.
Who may be able to join
- diagnose of Muscle or bone disorders
- with a combination of medical problems including muscle and bone disease and their family members.
Who cannot join
- under 18 year of age
- unrelated diagnosis
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Hewitt Hall
Irvine, California, 92697
Virginia Kimonis, MD, 714-456-5792, vkimonis@hs.uci.edu
About this study
The researcher wants to explore the genetic causes of muscle disease. The researcher is particularly interested in muscle disorders that occur in combination with diseases of bone that appear to be passed on from generation to generation.
Diffuse Optical Spectroscopy will measure the concentrations of blood, water, and lipids (fats, for example) in your tissues. This device essentially measures the color of tissues in order to determine tissue physiology (its physical and chemical processes).
Read the detailed description
Diffuse Optical Spectroscopy, the technique is fast and painless and was developed at the University of California, Irvine. The Diffuse Optical Spectroscopy instrument is actively involved in research studies, but is not yet a part of routine clinical practice. The result of this study will aid similar research projects that seek to improve our understanding of how tissues work and how alterations in metabolism affect long-term health.
TheDiffuse Optical Spectroscopy measurement consists of placing a probe onto the surface of your body (calf, bicep, or head). This probe will be secured by either gentle hand pressure or fastened to your skin using clinically-approved wraps such as Coban/wrap bandages or medical adhesive tape and medical glues. Several dots will be made on your skin outlining the probe with a surgical felt tip marker. This is so we would be able to put the probe again on the same spot in case we needed to interrupt the measurement. The probe looks like a bar code scanner in a supermarket and it shines infrared light on your skin. There is no radiation involved with this light. In some cases where light signals are low, the optical detector will be placed directly onto your skin (but contained within an electronically shielded casing, and placed inside another plastic casing). (not offered during pregnancy).
- Conditions
- Muscle Disorder, Bone Disorder
- Being tested
- Diffuse Optical Spectroscopy
- Keywords
- muscle and bone disease
- Medical subject headings
- Muscular Diseases, Bone Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diffuse Optical SpectroscopyDevice
Diffuse Optical Spectroscopy
| Study group | Role | What they receive |
|---|---|---|
| Muscle weakness | Diffuse Optical Spectroscopy Receives: Device: Diffuse Optical Spectroscopy |
What is being measured
The primary outcome is the main question the study is designed to answer.
muscle disease
Measured: 1 week
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2010 (estimated)
- Study start18 Jun 2010
- Primary completionJun 2030 (estimated)
- Study completionJun 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscle DisorderStudies of the same condition, open and under way.
- More trials run by University of California, IrvineThe sponsor's other registered studies.
- 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
- Prospective
- Enrolment
- 25 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of California, Irvine
- Sponsor type
- University, hospital or other
- Collaborators
- Beckman Laser Institute University of California Irvine
- Responsible party
- Principal investigator, Virginia Kimonis, University of California, Irvine
- Investigators
- Virginia Kimonis, MD, Principal investigator, Beckman Laser Institute University of California IrvineBruce Tromberg, PhD, Study director, Beckman Laser Institute University of California Irvine
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01166854
- Sponsor's protocol ID
- 20075832
- Status last verified
- Jun 2025
- First submitted
- 20 Jul 2010
- Last updated
- 18 Jun 2025
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 18 Jun 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Familial Myopathy and Paget Disease of Bone
- ClinicalTrials.gov ID
- NCT01166854
- Acronym / sponsor ID
- 20075832
- Conditions
- Muscle Disorder, Bone Disorder
- Keywords
- muscle and bone disease
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 25 participants (estimated)
- Lead sponsor
- University of California, IrvineUniversity, hospital or other
- Collaborators
- Beckman Laser Institute University of California Irvine
- Study start
- 18 Jun 2010 (actual)
- Primary completion
- Jun 2030 (estimated)
- Study completion
- Jun 2030 (estimated)
- First posted
- 21 Jul 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.
The researcher wants to explore the genetic causes of muscle disease. The researcher is particularly interested in muscle disorders that occur in combination with diseases of bone that appear to be passed on from generation to generation.
Diffuse Optical Spectroscopy will measure the concentrations of blood, water, and lipids (fats, for example) in your tissues. This device essentially measures the color of tissues in order to determine tissue physiology (its physical and chemical processes).
Detailed description
Diffuse Optical Spectroscopy, the technique is fast and painless and was developed at the University of California, Irvine. The Diffuse Optical Spectroscopy instrument is actively involved in research studies, but is not yet a part of routine clinical practice. The result of this study will aid similar research projects that seek to improve our understanding of how tissues work and how alterations in metabolism affect long-term health.
TheDiffuse Optical Spectroscopy measurement consists of placing a probe onto the surface of your body (calf, bicep, or head). This probe will be secured by either gentle hand pressure or fastened to your skin using clinically-approved wraps such as Coban/wrap bandages or medical adhesive tape and medical glues. Several dots will be made on your skin outlining the probe with a surgical felt tip marker. This is so we would be able to put the probe again on the same spot in case we needed to interrupt the measurement. The probe looks like a bar code scanner in a supermarket and it shines infrared light on your skin. There is no radiation involved with this light. In some cases where light signals are low, the optical detector will be placed directly onto your skin (but contained within an electronically shielded casing, and placed inside another plastic casing). (not offered during pregnancy).
Study design
- Observational model
- Case only
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Muscle weakness | – | Device: Diffuse Optical SpectroscopyDiffuse Optical Spectroscopy |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Study Population will be selected from Dr. Kimonis outpatient clinic at University of California Irvine.
Key inclusion criteria (2 listed)
- diagnose of Muscle or bone disorders
- with a combination of medical problems including muscle and bone disease and their family members.
Key exclusion criteria (2 listed)
- under 18 year of age
- unrelated diagnosis
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diffuse Optical SpectroscopyDiffuse Optical Spectroscopy | Device | Muscle weakness |
Primary outcome
muscle disease
Time frame: 1 week
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 18 Jun 2025.
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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.
Virginia Kimonis, MD principal investigator
Beckman Laser Institute University of California Irvine
Bruce Tromberg, PhD study director
Beckman Laser Institute University of California Irvine
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Muscle Disorder and Bone Disorder, run by University of California, Irvine at 1 site 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 2 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: looking for participants now, as of the sponsor's last update on 18 Jun 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site 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?
Contact Marie Wencel, BS (949-824-0521, mwencel@uci.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
muscle disease (time frame: 1 week). 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 18 Jun 2025.