Primary Sclerosing Cholangitis in Children

Launched by ARBOR RESEARCH COLLABORATIVE FOR HEALTH · Nov 26, 2019

Keywords

ClinConnect Summary

This clinical trial is focused on understanding a rare liver disease called primary sclerosing cholangitis (PSC), which affects the bile ducts in the liver. The study aims to gather information about how PSC develops in children and young adults, how it impacts their daily lives, and what factors might cause it to get worse. Children between the ages of 2 and 25 who have been diagnosed with PSC may be eligible to participate. To be included, they need to have specific findings from medical imaging or liver biopsies that confirm the diagnosis.

Participants in the study will be asked to share their medical information, provide DNA and other samples, and answer questions about how PSC affects their daily activities. This information will help researchers learn more about the disease and its long-term effects. The study is currently recruiting participants, and those who join can expect to contribute to important research that could improve understanding and treatment of PSC in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria:
• • Patients with the clinical diagnosis of large or small duct PSC made at any time prior to enrollment are screened for eligibility to participate in this prospective cohort study. The site PI will determine eligibility following review of MRCP or ERCP images with the site radiologist to confirm presence of an abnormal cholangiogram at the time of diagnosis of large duct PSC. Liver histopathology obtained at the time of diagnosis of small duct PSC will be reviewed with the site pathologist prior to enrollment.
• Individuals must meet all of the Inclusion criteria in order to be eligible to participate in the study:
• • 1. Aged 2 through 25 years at time of screening.
• 2. Diagnosis of large duct PSC based on review of cholangiogram by MRC, ERC, or intraoperative cholangiogram (IOC) by the site radiologist and interpreted to be consistent with PSC, based on one or more of the following:
• • Focal structuring of the bile duct(s)
• • Dominant stricture of the common bile duct
• • Saccular dilatation of bile duct(s)
• • Beaded appearance of bile duct(s)
• • Pruning appearance of the distal bile duct branches
• • AND/OR
• 3. Diagnosis of small duct PSC based on review of liver histopathology by the site pathologist and interpreted to be compatible with PSC:
• • Probable small duct PSC: biopsy with ≥3 of 5 criteria: periductal edema, concentric inflammation, bile duct injury, ductular reaction, and neutrophils in bile ducts (cholangitis) OR...
• • Definitive small duct PSC: Periductal fibrosis/ "onion skinning" around interlobular bile ducts or smaller profiles
• • 4. Stated willingness to comply with all study procedures and availability for the duration of the study.
• • 5. Able to provide informed consent/assent
• Participants for the imaging study are eligible if they are:
• • 1. Aged 8 through 25 years at the time of screening
• • 2. No absolute contraindication to MRI
• • 3. No skin condition that could be aggravated by MREL
• • 4. Meet all other eligibility criteria of the PSC Observational Study
• • 5. For whom none of the exclusion criteria apply
• Exclusion Criteria:
• • An individual who meets any of the following criteria at baseline will be excluded from participation in this study.
• • 1. History of liver transplantation
• • 2. History bone marrow transplantation
• • 3. History of primary or acquired immunodeficiency predisposing to secondary sclerosing cholangitis, for instance: hyper-IgM syndrome, severe combined immunodeficiency (SCID) syndrome, common variable immunodeficiency (CVID) syndrome, cartilage hair hypoplasia syndrome, or HIV/AIDS
• • 4. History of histiocytosis, including Langerhans cell histiocytosis (LCH), or hemophagocytic lymphohistiocytosis (HLH)
• • 5. History of ischemic cholangitis
• • 6. History of portal vein thrombosis with biliopathy, veno-occlusive disease, or abdominal radiation vasculopathy
• • 7. History of recurrent pyogenic cholangitis
• • 8. History of biliary tract surgery for cholecystolithiasis prior to cholangiogram/liver biopsy evaluated to determine enrollment
• • 9. History of biliary tract surgery for choledochal cyst
• • 10. History of hepatocellular carcinoma, or hepatoblastoma
• • 11. History of surgical biliary trauma
• • 12. History of congenital cytomegalovirus (CMV) hepatitis
• • 13. History of Sickle Cell Disease
• • 14. History of cystic fibrosis, biliary atresia, Caroli disease/congenital hepatic fibrosis, or progressive familial intrahepatic cholestasis type 3/MDR3 disease
• • 15. History of cardiac hepatopathy.
• • 16. History of metabolic disorders, including Wilson's disease, glycogen storage disorder, Alpha-1 Antitrypsin deficiency
• • 17. Diagnosis of systemic lupus erythematosus (SLE)
• • 18. Concurrent pregnancy at the time of enrollment -