Try our beta test site
IMPORTANT: Listing of a study on this site does not reflect endorsement by the National Institutes of Health. Talk with a trusted healthcare professional before volunteering for a study. Read more...

Characterization of Familial Myopathy and Paget Disease of Bone

This study is currently recruiting participants. (see Contacts and Locations)
Verified February 2017 by Beckman Laser Institute and Medical Center, University of California, Irvine
Beckman Laser Institute University of California Irvine
Information provided by (Responsible Party):
Beckman Laser Institute and Medical Center, University of California, Irvine Identifier:
First received: July 20, 2010
Last updated: February 8, 2017
Last verified: February 2017

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).

Condition Intervention
Muscle Disorder
Bone Disorder
Device: Diffuse Optical Spectroscopy

Study Type: Observational
Study Design: Observational Model: Case-Only
Time Perspective: Prospective
Official Title: Phase 1 Study Non-invasive Use Diffuse Optical Spectroscopy Will Measure the Concentrations of Blood, Water, and Lipids (Fats, for Example) in Tissues

Resource links provided by NLM:

Further study details as provided by Beckman Laser Institute and Medical Center, University of California, Irvine:

Primary Outcome Measures:
  • muscle disease [ Time Frame: 1 week ]

Estimated Enrollment: 25
Study Start Date: June 2010
Estimated Study Completion Date: June 2018
Estimated Primary Completion Date: June 2018 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
Muscle weakness
Diffuse Optical Spectroscopy
Device: Diffuse Optical Spectroscopy
Diffuse Optical Spectroscopy

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).


Ages Eligible for Study:   18 Years and older   (Adult, Senior)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No
Sampling Method:   Non-Probability Sample
Study Population
Study Population will be selected from Dr. Kimonis outpatient clinic at University of California Irvine.

Inclusion Criteria: Male or Female age 18 and older

  • diagnose of Muscle or bone disorders
  • with a combination of medical problems including muscle and bone disease and their family members.

Exclusion Criteria:

  • under 18 year of age
  • unrelated diagnosis
  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 identifier: NCT01166854

Contact: Marie Wencel, BS 949-824-0521

United States, California
Beckman Laser Institute Medical clinic Recruiting
Irvine, California, United States, 92612
Contact: Marie Wencel, BS    949-824-0521   
Contact: Montana Compton, RN    949-824-9265   
Sponsors and Collaborators
University of California, Irvine
Beckman Laser Institute University of California Irvine
Principal Investigator: Virginia Kimonis, MD Beckman Laser Institute University of California Irvine
Study Director: Bruce Tromberg, PhD Beckman Laser Institute University of California Irvine
  More Information

Responsible Party: Beckman Laser Institute and Medical Center, Virginia Kimonis, MD, MRCP, University of California, Irvine Identifier: NCT01166854     History of Changes
Other Study ID Numbers: NIH/LAMMP-2007-5832
Study First Received: July 20, 2010
Last Updated: February 8, 2017

Keywords provided by Beckman Laser Institute and Medical Center, University of California, Irvine:
muscle and bone disease

Additional relevant MeSH terms:
Bone Diseases
Muscular Diseases
Pathologic Processes
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases processed this record on May 25, 2017