Characterizing inherited muscle disease with Paget bone disease
Characterization of Familial Myopathy and Paget Disease of Bone
This observational study will use painless infrared tissue scans and genetic analysis to try to find inherited causes of combined muscle and bone disorders in adults and their family members.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 25 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | University of California, Irvine Academic / other |
| Drugs / interventions | radiation |
| Locations | 1 site (Irvine, California) |
| Trial ID | NCT01166854 on ClinicalTrials.gov |
What this trial studies
This is an observational, family-based investigation of adults who have both muscle and bone disorders that appear to run in families. Researchers will collect clinical and family history information, perform genetic studies, and use Diffuse Optical Spectroscopy to measure tissue blood, water, and lipid content at sites such as the calf, bicep, or head. The spectroscopy measurement is noninvasive and painless, involves placing a small probe on the skin, and is repeated on marked locations to ensure consistency. Study results aim to improve understanding of how inherited genetic changes affect muscle and bone physiology and metabolism.
Who should consider this trial
Good fit: Adults (18 and older) who have both muscle and bone disorders that appear hereditary, and their family members, are ideal candidates for this study.
Not a fit: People without a personal or family history of combined muscle and bone disorders, or individuals under age 18, are unlikely to receive direct benefit from participation.
Why it matters
Potential benefit: If successful, the project could identify genetic causes that improve diagnosis and guide future therapies for families with combined muscle and Paget bone disease.
How similar studies have performed: Prior genetic research has identified some genes linked to Paget disease and certain myopathies, though combining detailed tissue optical measurements with family genetics is a relatively novel approach.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Irvine, California
- Hewitt Hall — Irvine, California, United States (Recruiting)
Study contacts
- Principal investigator: Virginia Kimonis, MD — Beckman Laser Institute University of California Irvine
- Study coordinator: Marie Wencel, BS
- Email: mwencel@uci.edu
- Phone: 949-824-0521
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.