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NCT Number: NCT01166854

Characterization of Familial Myopathy and Paget Disease of Bone

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).

Recruiting

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Key information

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Hewitt Hall

Irvine, California, 92697, United States

Location status: Recruiting

Location contact

Virginia Kimonis, MD

CONTACT

[email protected]

714-456-5792

About this study

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).

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Diffuse Optical Spectroscopy

Device

Diffuse Optical Spectroscopy

Primary outcomes

  1. muscle disease

    Time frame: 1 week

Study contacts

Contact information is provided by the study sponsor or research team.

Marie Wencel, BS

CONTACT

[email protected]

949-824-0521

Virginia Kimonis, MD

CONTACT

[email protected]

714-456-5791

Sponsors and collaborators

Lead sponsor

University of California, Irvine

Other

Collaborators

  • Beckman Laser Institute University of California Irvine

Registry information

Important dates

Study start
2010
Primary completion
2030
Study completion
2030
First posted
Jul 21, 2010
Registry last updated
Jun 18, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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