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RecruitingNCT01166854Updated Jun 18, 2025

Characterization of Familial Myopathy and Paget Disease of Bone

An observational study in Muscle Disorder and Bone Disorder, sponsored by University of California, Irvine. Recruiting at 1 site in United States. Open to participants aged 18 Years and older. Per ClinicalTrials.gov, last updated 2025-06-18.

Sponsored by University of California, Irvine · Observational

From the registry’s dates

  • Started Jun 2010; still recruiting 16 years 4 months later.
Study type
Observational
Model
Case-only
Time perspective
Prospective
Enrollment
25
Ages
18 Years and older
Sex
All
01

Study 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).

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).

02

Conditions studied

  • Muscle Disorder
  • Bone Disorder

Keywords

  • muscle and bone disease
03

In context

Muscular Diseases

232 studies on the registry are indexed under Muscular Diseases; 54 are open to participants now.

This study's planned enrollment of 25 is below the median of 95 across 85 observational studies indexed under Muscular Diseases.

Browse Muscular Diseases studies →

Lead sponsor

University of California, Irvine is the lead sponsor of 476 studies on the registry; 98 are open to participants now.

Of its 41 completed or terminated interventional studies of FDA-regulated products, 30 (73%) have results posted.

Counted across the registry records on this site, refreshed daily.

04

Who can participate

Ages eligible
18 Years and older
Sexes eligible
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.

Eligibility criteria

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
05

Study design

Observational model
Case-only
Time perspective
Prospective
Enrollment
25 participants (estimated)

Groups and cohorts

  • Muscle weakness

    Diffuse Optical Spectroscopy

    Device: Diffuse Optical Spectroscopy

Interventions

  • DeviceDiffuse Optical Spectroscopy

    Diffuse Optical Spectroscopy

06

What researchers measure

Primary outcomes

  1. muscle disease

    Time frame: 1 week

07

Study locations

1 of 1 sites recruiting
  • Hewitt Hall
    Irvine, California 92697, United States
    Recruiting
08

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Jun 18, 2025, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
09

Registry details

Key details

Study ID
NCT01166854
Collaborators
Beckman Laser Institute University of California Irvine
Responsible party
Virginia Kimonis (Virginia Kimonis, MD, MRCP, University of California, Irvine) — Principal investigator
First posted
Jul 21, 2010
Start date
Jun 18, 2010
Primary completion
Jun 2030 (estimated)
Completion
Jun 2030 (estimated)
Last update
Jun 18, 2025

Study contacts

Marie Wencel, BS
Contact
mwencel@uci.edu
949-824-0521
Virginia Kimonis, MD
Contact
vkimonis@hs.uci.edu
714-456-5791
Virginia Kimonis, MD
principal investigator · Beckman Laser Institute University of California Irvine
Bruce Tromberg, PhD
study director · Beckman Laser Institute University of California Irvine

Oversight

Data monitoring committee
No
View the source record on ClinicalTrials.gov ↗

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