Benefits and Risks of Newborn Screening for Cystic Fibrosis

Sponsor

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) (NIH)

Overall Status

Completed

CT.gov ID

NCT00014950

Collaborator

National Center for Research Resources (NCRR) (NIH)

Locations

Study Details

Study Description

Brief Summary

Although cystic fibrosis (CF) is the most common, life-threatening autosomal recessive genetic disorder of the white population, there are often delays in diagnosis and hence start of treatment. Advances of the past two decades have made CF screening feasible using routinely collected neonatal blood specimens and measuring an enzyme level followed by CF mutation DNA analysis. Our overall goal of the study is to see if early diagnosis of CF through neonatal screening will be medically beneficial without major risks. ''Medically beneficial'' refers to better nutrition and/or pulmonary status, whereas '' risks'' include laboratory errors, miscommunication or misunderstanding, and adverse psychosocial consequences. Specific aims include assessment of the benefits, risks, costs, quality of life, and cognitive function associated with CF neonatal screening and a better understanding of the epidemiology of CF.

A comprehensive, randomized clinical trial emphasizing early diagnosis as the key variable has been underway since 1985. Nutritional status has been assessed using height and weight measurements and biochemical methods. The results have demonstrated significant benefits in the screened (early diagnosis) group. We are now focusing on the effect of early diagnosis of CF on pulmonary outcome. Pulmonary status is measured using chest radiographs, chest scans using high resolution computerized tomography, and pulmonary function tests. Other factors that we are looking at include risk factors for the acquisition of respiratory pathogens such as Pseudomonas aeruginosa, quality of life and cognitive function of children with CF who underwent early versus delayed diagnosis, as well as the cost effectiveness of screening and the costs of diagnosis and treatment of CF throughout childhood.

If the questions underlying this study are answered favorably, it is likely that neonatal screening using a combination of enzyme level (immunoreactive trypsinogen) and DNA test will become the routine method for identifying new cases of CF not only in the State of Wisconsin, but throughout the country.

Condition or Disease	Intervention/Treatment	Phase
Cystic Fibrosis Lung Disease Pseudomonas Infections	Procedure: CF newborn screening	N/A

Study Design

Study Type:

Interventional

Allocation:

Randomized

Intervention Model:

Single Group Assignment

Primary Purpose:

Diagnostic

Official Title:

Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

Outcome Measures

Primary Outcome Measures

Eligibility Criteria

Criteria

Ages Eligible for Study:

1 Month to 21 Years

Sexes Eligible for Study:

All

Accepts Healthy Volunteers:

Inclusion Criteria:

Must have been born in the State of Wisconsin
Must have been born between April 15, 1985 and June 30, 1994
Must have had a valid newborn screening test for cystic fibrosis in the first 28 days of life.
Must have a sweat chloride test greater or equal to 60 mmol/Liter
Parental consent

Contacts and Locations

Locations

	Site	City	State	Country	Postal Code
1	University of Wisconsin	Madison	Wisconsin	United States	53706
2	Children's Hospital of Wisconsin	Milwaukee	Wisconsin	United States	53201

Sponsors and Collaborators

National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
National Center for Research Resources (NCRR)

Investigators

Principal Investigator: Philip M. Farrell, MD, PhD, Dean University of Wisconsin Medical School
: Michael J. Rock, M.D., Dept. Pediatrics, UW Hospital
: Mark Splaingard, Children's Hospital and Health System Foundation, Wisconsin
: Anita Laxova, Dept. Pediatrics, UW Madison