Browse Studies — Arctuva

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

Estimated

~$10 – $1,125

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

Estimated

~$10 – $750

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

Estimated

~$10 – $750

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