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4 recruiting studies matching your filters
Orphan Europe Carbaglu® Surveillance Protocol
The purpose of this study is to conduct post-marketing surveillance of carglumic acid (Carbaglu) to obtain long-term clinical safety information. Carglumic aci…
N-acetylglutamate Synthase (NAGS) Deficiency
Nicholas Ah MewNCT03409003
Hepatic Histopathology in Urea Cycle Disorders
This is a multi-site, retrospective chart review as well as a prospective study to evaluate histopathologic findings in liver samples from individuals with any…
Urea Cycle DisorderOrnithine Transcarbamylase DeficiencyCitrullinemia 1+7 more
Baylor College of MedicineNCT04908319
Delineating the Molecular Spectrum and the Clinical, Imaging and Neuronal Phenotype of Chopra-Amiel-Gordon Syndrome
The purpose of this study is to establish the longitudinal natural history of individuals with confirmed or suspected Chopra-Amiel-Gordon Syndrome (CAGS) to le…
Genetic DiseaseChopra-Amiel-Gordon SyndromeCAGS+1 more
Boston Children's HospitalNCT05528744
The Myelin Disorders Biorepository Project and Global Leukodystrophy Initiative Clinical Trials Network
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to s…
LeukodystrophyWhite Matter DiseaseLeukoencephalopathies+63 more