Establishment of Disease Ranges of Selected Markers and Ratios for the Detection of OTC Deficiency and CPS Deficiency using Newborn Blood Spots
Overview
Tab Title Description
Study type
ObservationalDescribes the nature of a clinical study. Types include:
- Observational study — observes people and measures outcomes without affecting results.
- Interventional study (clinical trial) — studies new tests, treatments, drugs, surgical procedures or devices.
- Medical records research — uses historical information collected from medical records of large groups of people to study how diseases progress and which treatments and surgeries work best.
Study IDs
Site IRB
- Rochester, Minnesota: 09-001709
Sponsor Protocol Number: 09-001709
About this study
The purpose of this study is to obtain and analyze existing newborn screening data from previously identified patients with a confirmed diagnosis of a urea cycle disorder (UCD) (when all necessary analytes were measured by the state laboratories) OR collect and analyze dried blood spots from newborn screening cards of previously identified patients with a confirmed diagnosis of a urea cycle disorder (UCD).
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:
- Any individual diagnosed with any of the following UCDs
- Ornithine transcarbamylase (OTC) deficiency
- Carbamoylphosphate synthetase I deficiency (CPSI deficiency)
- N-Acetylglutamate synthase deficiency (NAGS deficiency))
- Original newborn screening sample is still available.
Exclusion Criteria:
- Pregnant women affected with a UCD will be eligible, as participation in this study will have no impact on management or treatment of previously diagnosed patients.
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 |
|
Rochester, Minn.
Mayo Clinic principal investigator Piero Rinaldo, M.D., Ph.D. |
Closed for enrollment |
|
More information
Publications
Publications are currently not available