Chronic Liver Disease in Urea Cycle Disorders
Λέξεις-κλειδιά
Αφηρημένη
Περιγραφή
Urea cycle disorders (UCDs) are among the most common inborn errors of liver metabolism.With early diagnosis and improved treatments, the survival of individuals with UCDs has improved, and this improved survival has led to unmasking of some long-term complications such as hepatic dysfunction and progressive fibrosis in a subset of patients. Hepatic complications in UCDs are quite variable and dependent upon the specific metabolic defect. Currently, there are no guidelines for monitoring hepatic complications or extent of liver disease in UCDs.
The purpose of this study is: 1) To determine whether liver stiffness is higher in individuals with ASS1D, ASLD, and ARG1D as compared to females with OTCD, and to assess liver stiffness in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD), 2) To test whether markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis provide evidence of chronic liver disease in individuals with ASS1D, ASLD, and ARG1D as compared to OTCD and to assess these sample markers of hepatocellular injury and function and novel serum biomarker panels for hepatic fibrosis in other UCDs (citrin deficiency, NAGSD, CPS1D, and males with OTCD).
Ημερομηνίες
| Τελευταία επαλήθευση: | 06/30/2020 |
| Πρώτα υποβλήθηκε: | 06/19/2018 |
| Υποβλήθηκε εκτιμώμενη εγγραφή: | 10/23/2018 |
| Δημοσιεύτηκε για πρώτη φορά: | 10/25/2018 |
| Υποβλήθηκε τελευταία ενημέρωση: | 07/06/2020 |
| Δημοσιεύτηκε η τελευταία ενημέρωση: | 07/07/2020 |
| Ημερομηνία έναρξης της πραγματικής μελέτης: | 11/28/2017 |
| Εκτιμώμενη κύρια ημερομηνία ολοκλήρωσης: | 05/31/2020 |
| Εκτιμώμενη ημερομηνία ολοκλήρωσης μελέτης: | 05/31/2020 |
Κατάσταση ή ασθένεια
Παρέμβαση / θεραπεία
Other: Urea Cycle Disorders
Φάση
Ομάδες βραχιόνων
| Μπράτσο | Παρέμβαση / θεραπεία |
|---|---|
| Urea Cycle Disorders | Other: Urea Cycle Disorders All individuals will undergo a blood draw for measurement of biomarkers of liver disease and an ultrasound with shear-wave elastography. |
Κριτήρια καταλληλότητας
| Επιλέξιμες ηλικίες για μελέτη | 5 Years Προς την 5 Years |
| Φύλα επιλέξιμα για μελέτη | All |
| Μέθοδος δειγματοληψίας | Non-Probability Sample |
| Δέχεται υγιείς εθελοντές | Ναί |
| Κριτήρια | Inclusion Criteria: 1. Age > 5 years and < 60 years 2. Weight ≥ 11 kg 3. Males or females with a diagnosis of OTCD based on molecular or enzymatic testing. Males or females with a diagnosis of CPS1D, citrin deficiency, NAGSD, ASS1D, ASLD or ARG1D based on biochemical OR molecular, OR enzymatic testing Exclusion Criteria: 1. History of hyperammonemia (blood ammonia greater than 100 micromoles/L) documented in the medical record or reported by the patient in the 30 days preceding enrollment visit 2. History of Liver transplantation 3. Current pregnancy 4. Confirmed diagnosis of chronic viral hepatitis, autoimmune liver disease, or alcohol liver disease |
Αποτέλεσμα
Πρωτεύοντα αποτελέσματα
1. Liver shear wave velocity in m/s as measured by shear wave elastography [One measurement made on the day of study visit]
