The purpose of this study is to establish a mechanism to collect a genetic biosample from the participants and their biological parents previously enrolled into clinical research under ChiLDReN-supported protocols, A Prospective Database of Infants with Cholestasis (PROBE, NCT00061828); Biliary Atresia Study in Infants and Children (BASIC, NCT00345553); Longitudinal Study of Genetic Causes of Intrahepatic Cholestasis (LOGIC, NCT00571272); and A Longitudinal Study of Mitochondrial Hepatopathies (MITOHEP, NCT01148550). Each of these protocols captures robust clinical longitudinal data and collects specimens to establish repositories to support future research.
The major objective of this protocol is to augment a repository of DNA from participants and their biological parents previously enrolled into clinical research but for whom a DNA biosample was not previously collected. The acquisition and storage of DNA from participants and their biological parents will make available an important resource for future and ongoing studies that may evaluate etiology, pathogenesis, biomarkers, pharmacogenomics, and genetic modifiers of these rare disorders.
None
Inclusion criteria:
Exclusion criteria:
This study is ongoing.
Endocrine Diseases and Metabolic Diseases, Multidisciplinary Research, Liver Disease
Observational
14
2022-04
2029-05
Cholestasis, Alagille Syndrome, Mitochondrial Disease, Bile Duct Disorder, Alpha 1-Antitrypsin Deficiency, Biliary Atresia
Mitochondrial Hepatopathies, Biliary Atresia, LOGIC, Bile Acid Synthesis Defects (BASD), PROBE, Alagille Syndrome (ALGS), Alpha 1-Antitrypsin Deficiency (α1-AT), Progressive Familial Intrahepatic Cholestasis (PFIC), Neonatal Hepatitis, MITOHEP, BASIC, Rare Cholestatic Liver Diseases of Childhood
Division of Digestive Diseases and Nutrition
Specimen | Count |
---|---|
DNA | 845 |