Overview
Tab Title Description
Study IDs
Site IRB
- Rochester, Minnesota: 25-006140
About this study
The purpose of this study is to develop clinical assays, both biochemical and molecular, for SORD deficiency and other metabolic conditions in the Biochemical Genetics Laboratory (BGL) using specimens collected from consenting individuals who have a confirmed diagnosis of SORD or other inborn error of metabolism disease (IEM), are a first degree relative of an individual with an IEM, or have another condition that causes a metabolic disturbance.
Participation eligibility
Participant eligibility includes age, gender, type and stage of disease, and previous treatments or health concerns. Guidelines differ from study to study, and identify who can or cannot participate. There is no guarantee that every individual who qualifies and wants to participate in a trial will be enrolled. Contact the study team to discuss study eligibility and potential participation.
Inclusion Criteria:
Exclusion Criteria:
Note: Other protocol defined Inclusion/Exclusion Criteria may apply.
Eligibility last updated 07/01/2025. Questions regarding updates should be directed to the study team contact.
Participating Mayo Clinic locations
Study statuses change often. Please contact the study team for the most up-to-date information regarding possible participation.
More information
Publications
Publications are currently not available