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The goal of this investigational study is to better understand the different characteristics of methylsterol oxidase deficiency. Conducted through the Sterol and Isoprenoid Research Consortium (STAIR), this study will use blood and urine test results, and a review of patient medical records, to help doctors better understand the disorder. A more thorough understanding of this rare disorder may help doctors to identify it in other patients and/or to develop potential treatments for it.
The study is open to children and adults of all ages who have been diagnosed with methylsterol oxidase deficiency or who have a family member with the deficiency.
Males: All ages
Females: All ages
A blood and urine specimen will be collected from each participant and past and current medical records will be reviewed, and additional blood and urine samples will be collected after 1 year. Some participants may have a follow-up appointment after 6 months, depending on the health assessment made at the first visit.
Visits: 2 or 3
Duration: 1 year
Rare Diseases Clinical Research Network
Sterol and Isoprenoid Research Consortium (STAIR)
National Institutes of Health
Medical Genetics Research
Gerard Vockley, MD, PhD
For more information about the study or enrollment, please contact:Jennifer Baker, MA
Children's Hospital's main campus is located in the Lawrenceville neighborhood. Our main hospital address is:
UPMC Children’s Hospital of Pittsburgh
One Children’s Hospital Way
4401 Penn Ave.
Pittsburgh, PA 15224
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