OTC Deficiency Study

Overview

About this study

The objectives of this study are to perform genomic testing and trio analysis on specimens from three deceased patients with partial OTC deficiency who died unexpectedly while receiving treatment, along with testing on blood from their 5 parents, to determine whether there were any other genetic factors that may have contributed to sudden, unexpected death of the patient. In addition, medical records analysis and case summary would be carried out for all deceased patients with known partial OTC deficiency.

To consider whether further investigation into the pathogenesis of OTC deficiency is warranted to find previously unidentified risk factors for sudden death in patients with partial OTC deficiency

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:

  • Deceased children with partial ornithine transcarbamylase (OTC) deficiency who were under strict treatment and died unexpectedly, and their parents.

Exclusion Criteria: 

  • Lack of quality or significant volume of DNA from all submitted specimens.

Eligibility last updated 2/3/22. 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.

Mayo Clinic Location Status Contact

Rochester, Minn.

Mayo Clinic principal investigator

Amy White, M.S., CGC

Closed-enrolling by invitation

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"Close"
Not open to everyone who meets the eligibility criteria, but only those invited to participate by the study team.

Contact information:

Amy White M.S., CGC

(507) 284-5793

White.Amy1@mayo.edu

More information

Publications

Publications are currently not available