Status: Recruiting
Longitudinal Study of Urea Cycle Disorders
Urea cycle disorders (UCD) are a group of rare inherited metabolism disorders. Infants and children with UCD commonly experience episodes of vomiting, lethargy, and coma. The purpose of this study is to perform a long-term analysis of a large group of individuals with various UCDs. The study will focus on the natural history, disease progression, treatment, and outcome of individuals with UCD.
Participants needed: 1,500
Trial details
Biological sex: AllType: ObservationalSponsor: Andrea GropmanUpdated: Feb 13, 2024Locations: 15
Eligibility criteria
Diagnosis of NAGS deficiency, defined as the detection of a pathogenic mutation,... [+8]
Hyperammonemia caused by an organic academia, lysinuric protein intolerance, mit... [+1]