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Characterization of Familial Myopathy and Paget Disease of Bone

Status
Recruiting
Phases
Unknown
Study type
Observational
Source
ClinicalTrials.gov
Registry ID
NCT01166854
Enrollment
25
Registered
2010-07-21
Start date
2010-06-18
Completion date
2030-06-30
Last updated
2025-06-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Bone Disorder, Muscle Disorder

Keywords

muscle and bone disease

Brief 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. 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).

Interventions

Diffuse Optical Spectroscopy

Sponsors

Beckman Laser Institute University of California Irvine
CollaboratorOTHER
University of California, Irvine
Lead SponsorOTHER

Study design

Observational model
CASE_ONLY
Time perspective
PROSPECTIVE

Eligibility

Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No

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

Design outcomes

Primary

MeasureTime frame
muscle disease1 week

Countries

United States

Contacts

Primary ContactMarie Wencel, BS
mwencel@uci.edu949-824-0521
Backup ContactVirginia Kimonis, MD
vkimonis@hs.uci.edu714-456-5791

Outcome results

None listed

Source: ClinicalTrials.gov · Data processed: Feb 4, 2026