Prediction by Ultrasound of the Risk of Hepatic Cirrhosis in Cystic Fibrosis
Condition: Cystic Fibrosis; Pancreatic Insufficiency
MeSH terms: Cystic Fibrosis; Exocrine Pancreatic Insufficiency; Liver Cirrhosis; Fibrosis
Study type: Observational

Summary: 
      The specific aims for this study are:

        1. To determine if sonographic findings predict the risk of progression of liver disease to
           cirrhosis by comparing cystic fibrosis subjects with heterogeneous echogenicity pattern
           on ultrasound to those with normal echogenicity pattern on ultrasound

        2. To develop a database and biorepository of serum, plasma, urine and DNA to aid the
           investigations in ascertaining the mechanisms, consequences, genetic risk factors and
           biomarkers for the development of cirrhosis

        3. To determine if there are differences in health related quality of life, pulmonary or
           nutritional status in children with cystic fibrosis who have a heterogeneous echo
           pattern on ultrasound compared to those who have a normal echo pattern on ultrasound

        4. To determine if Doppler velocity measurements of hepatic and splenic vessels predict an
           increased risk for the development of cirrhosis.

        5. To determine if cirrhosis on ultrasound progresses to portal hypertension during the
           study period

        6. To determine if homogeneous liver progresses to either cirrhosis or heterogeneous liver.

        7. To determine the frequency of complications of portal hypertension during follow up in
           those identified with cirrhosis by year 6 of the study
    

Detailed description: 
      For subjects in longitudinal follow up, this study will:

        1. Collect detailed clinical and demographic information about each subject at enrollment
           and during follow up,

        2. Obtain and store imaging data from the subject at entry and during follow up,

        3. Obtain and store serum, plasma and urine samples from the subject at entry (after
           matching) and during follow up,

        4. Obtain and store DNA from the subject,

        5. Obtain and store DNA from the biological parents,

        6. Obtain and store quality of life data from the subject and parents at enrollment and
           during follow up
    

Intervention name(s): Abdominal Ultrasound; Sample collection procedures
Intervention type(s): Procedure; Other
Intervention description(s): To establish eligibility and/or markers regarding echo pattern types.; Samples of urine, serum, plasma, and blood for DNA from children and blood for DNA from parents will be requested from participating subjects
Other intervention name(s): Doppler Ultrasound; Doppler Ultrasound
Observational model: Cohort
Time perspective: Prospective
Sampling method: Non-Probability Sample
Study population: 
        The study population will consist of males and females 3 through 12 years of age with
        Cystic Fibrosis and pancreatic insufficiency who are enrolled in the CFF or Toronto CF
        registry studies. All racial and ethnic groups will be included.
      
Biospecimen description: 
      During this study, blood and urine specimens will be obtained, de-identified and shipped to
      and stored at the NIDDK repositories for use in future CFLD ancillary studies. This
      "biobanking" is a critical aspect of this longitudinal study to facilitate the creation of a
      resource of DNA and other specimens from a meaningful number of patients with CFLD. In
      addition, obtaining and storing DNA or EBV-transformed leukocytes (from which DNA can be
      extracted) will allow future studies to investigate genetic causes and influences (modifier
      genes) in CFLD.
    
Keywords: Cystic Fibrosis; Pancreatic insufficiency