Baby Observational and Nutritional Study

Newborn screening (NBS) for cystic fibrosis (CF) has decreased the prevalence of
malnutrition in infancy, but suboptimal nutrition still persists. In one study, 60% of
infants diagnosed by NBS achieved their birth weight percentile by two years of age, while
40% did not. The many factors that contribute to this poor growth have not been defined and
persist despite pancreatic enzyme supplementation. Although published guidelines for the
clinical management of infants with cystic fibrosis in the U.S. and Europe exist, there is
an alarming scarcity of evidence to dictate care. In order to proceed with large scale
randomized studies to evaluate the range of interventions for infants with CF, we need to
not only develop precise techniques for measuring growth but also pursue unexplored factors
that may contribute to poor growth.

This is a multi-center observational clinical study with a nested interventional PERT
sub-study. The observational study was designed to follow in a prospective manner incident
cases of CF for up to 12 months. The PERT sub-study is a randomized, double-blind, crossover
sub-study designed to evaluate the efficacy and safety of two doses of PERT (pancreatic
enzyme replacement therapy) for improving coefficient of fat absorption (CFA) in the stool
of infants with CF. The PERT sub-study was unable to enroll and closed. No results
available.

Observational Study

Inclusion Criteria:

1. Signed informed consent

2. Males or females no more than three and one half (3.5) months of age at enrollment

3. Documentation of a CF diagnosis as evidenced by:

1. One or more of the following: one or more clinical features consistent with the
CF phenotype OR a positive newborn screening (NBS) OR a positive pre-natal
screen

AND

2. One or more of the following: sweat chloride ≥ 60 mEq/liter by quantitative
pilocarpine iontophoresis test (QPIT) OR two well-characterized mutations in the
cystic fibrosis transmembrane conductance regulator (CFTR) gene

4. Enrolled in the Cystic Fibrosis Foundation Patient Registry. (Patients may enroll in
the Registry at Enrollment Visit if not previously enrolled.)

Exclusion Criteria:

1. Children unable to take full oral feeds

2. Any serious or active medical condition, which in the opinion of the investigator,
contributes to malabsorption, interferes with normal growth, or would otherwise
interfere with subject's treatment, assessment, or compliance with the protocol.

3. Gestational age less than 35 weeks and/or birth weight < 2.5 kg.