Characterization of Familial Myopathy and Paget Disease of Bone

Study Overview
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Brief Summary
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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
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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).

Official Title
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Phase 1 Study Non-invasive Use Diffuse Optical Spectroscopy Will Measure the Concentrations of Blood, Water, and Lipids (Fats, for Example) in Tissues

Conditions
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Muscle Disorder, Bone Disorder

Intervention / Treatment
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* Device: Diffuse Optical Spectroscopy


Participation Criteria
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Eligibility Criteria
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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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Muscle weakness<br>Diffuse Optical Spectroscopy | Device: Diffuse Optical Spectroscopy<br>* Diffuse Optical Spectroscopy<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| muscle disease |  | 1 week | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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muscle and bone disease