Methylsterol Oxidase Deficiency Study

Biochemical and Immunologic Characterization of Methylsterol Oxidase Deficiency

Protocol Description

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.

Eligibility Criteria

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

Status: Open for Enrollment

Source(s) of Support

Rare Diseases Clinical Research Network
Sterol and Isoprenoid Research Consortium (STAIR)
National Institutes of Health

Additional Information

Medical Genetics Research

Primary Investigator

Gerard Vockley, MD, PhD

Contact Information

For more information about the study or enrollment, please contact:
Jennifer Baker, MA