Cystic Fibrosis, Pancreatic Insufficiency
Conditions
Keywords
Cystic Fibrosis, Pancreatic insufficiency
Brief 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
Interventions
PROCEDUREAbdominal Ultrasound
To establish eligibility and/or markers regarding echo pattern types.
OTHERSample collection procedures
Samples of urine, serum, plasma, and blood for DNA from children and blood for DNA from parents will be requested from participating subjects
Sponsors
Cystic Fibrosis Foundation
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
3 Years to 12 Years
Healthy volunteers
No
Inclusion criteria
* Children aged 3 through 12 years of age at time of enrollment diagnosed with Cystic Fibrosis and pancreatic insufficiency * Enrolled in the CFF registry study or Toronto CF Registry * CF defined as sweat chloride of \>60 mEq/L on one occasion (using the value in the CF registry) or two disease-causing mutations of CFTR with evidence of end organ involvement. * Pancreatic insufficient defined as one of the following: * CFTR Mutation associated with pancreatic insufficiency * Fecal elastase \<100 mcg/gm (at any time) * 72 hour fecal fat with coefficient of fat absorption \<85% (at any time)
Exclusion criteria
* Known cirrhosis * Presence of Burkholderia cepacia * Short bowel syndrome defined as not on full enteral feeds by 3 months of age * Presence of other serious disease precluding participation in this study (This would include patients with known other causes of chronic liver disease) * If in the opinion of the Investigator the study is not in the best interest of the patient * Inability to comply with the longitudinal follow-up described below * Failure of a family to sign the informed consent document or the HIPAA medical record release form
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Development of cirrhosis, as defined by imaging criteria | Nine years | The primary objective of this prospective longitudinal study is to determine the utility of abdominal ultrasound (US) at enrollment to predict the development of cirrhosis in subjects with cystic fibrosis (CF) within a nine year period. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Effects on associated pulmonary and nutritional issues | 9years | * Health related quality of life * Growth (length, weight and BMI Z-score, anthropometrics) * AST,ALT,GGTP * FEV1, FVC * Sputum Culture (Pseudomonas, Burkholderia cepacia) * Use of IV antibiotics * Hospitalization for treatment of pulmonary exacerbation * CBC (WBC, Hbg, ANC, platelet count) * Fat soluble vitamin levels (Vitamin E, 25 hydroxy vitamin D, Vitamin A) |
Countries
Canada, United States
Outcome results
None listed