Characterization of Familial Myopathy and Paget Disease of Bone

NCT ID: NCT01166854

Last Updated: 2025-06-18

Basic Information

• Recruitment Status: RECRUITING
• Total Enrollment: 25 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2010-06-18
• Study Completion Date: 2030-06-30

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).

Conditions

Muscle Disorder; Bone Disorder

Study Design

• Observational Model Type: CASE_ONLY
• Study Time Perspective: PROSPECTIVE

Study Groups

Muscle weakness

Diffuse Optical Spectroscopy

Diffuse Optical Spectroscopy

Intervention Type: DEVICE

Diffuse Optical Spectroscopy

Interventions

Diffuse Optical Spectroscopy

Diffuse Optical Spectroscopy

Intervention Type: DEVICE

Eligibility Criteria

Inclusion Criteria

• 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

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

Beckman Laser Institute University of California Irvine

OTHER

Sponsor Role: collaborator

University of California, Irvine

OTHER

Sponsor Role: lead

Responsible Party

Virginia Kimonis

Virginia Kimonis, MD, MRCP

Responsibility Role: PRINCIPAL_INVESTIGATOR

Principal Investigators

Virginia Kimonis, MD

Role: PRINCIPAL_INVESTIGATOR

Beckman Laser Institute University of California Irvine

Bruce Tromberg, PhD

Role: STUDY_DIRECTOR

Beckman Laser Institute University of California Irvine

Locations

Hewitt Hall

Irvine, California, United States

Site Status: RECRUITING

Countries

United States

Central Contacts

Marie Wencel, BS

Role: CONTACT

mwencel@uci.edu

949-824-0521

Virginia Kimonis, MD

Role: CONTACT

vkimonis@hs.uci.edu

714-456-5791

Facility Contacts

Virginia Kimonis, MD

Role: primary

vkimonis@hs.uci.edu

714-456-5792

Other Identifiers

20075832

Identifier Type: -

Identifier Source: org_study_id