Characterizing inherited muscle disease with Paget bone disease

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.