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Acknowledgement Statement
The ChiLDReN-Genetics study was conducted by the study investigators and supported by the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). The resources from the ChiLDReN-Genetics study reported here were supplied by NIDDK Central Repository (NIDDK-CR) and are available for request at https://repository.niddk.nih.gov. This manuscript was not prepared under the auspices of the ChiLDReN-Genetics study and does not necessarily reflect the opinions or views of the ChiLDReN-Genetics study, NIDDK-CR, or NIDDK.
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General Description

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.

Objectives

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.

Outcome Measure

None

Eligibility Criteria

Inclusion criteria:

  • For child participants:
    • Previous enrollment in PROBE, BASIC, LOGIC, or MITOHEP
    • Exited from one of the aforementioned studies
    • Consent for DNA sample collection obtained during enrollment during enrollment to one of the aforementioned studies but sample not previously collected
    • Still followed at the clinical site
  • For biological parent participants:
    • Biological parents of previously consented child participant without collection of a parental DNA biospecimen
    • Child still followed at the clinical site

Exclusion criteria:

  • For child participants:
    • Participant is deceased
    • Participant exited from prior study due to violating eligibility criteria
    • Participant cannot be contacted
  • For biological parent participants:
    • Non-biological parent
    • Child DNA was not previously collected and will not be collected in this study
Outcome

This study is ongoing.

Research Area

Multidisciplinary Research, Liver Disease, Endocrine Diseases and Metabolic Diseases

Study Type

Observational

Study Sites

14

Study Start Date

2022-04

Study End Date

2029-05

Condition

Mitochondrial Disease, Cholestasis, Alagille Syndrome, Bile Duct Disorder, Biliary Atresia, Alpha 1-Antitrypsin Deficiency

Clinical Trials URL

https://www.clinicaltrials.gov/study/NCT05272319

Keywords

PROBE, BASIC, Bile Acid Synthesis Defects (BASD), Mitochondrial Hepatopathies, Alpha 1-Antitrypsin Deficiency (α1-AT), Progressive Familial Intrahepatic Cholestasis (PFIC), Biliary Atresia, Rare Cholestatic Liver Diseases of Childhood, MITOHEP, Neonatal Hepatitis, LOGIC, Alagille Syndrome (ALGS)

NIDDK Division

Division of Digestive Diseases and Nutrition

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Specimens (516)
Specimens Table
Specimen
Count
DNA516