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Benefits and Risks of Newborn Screening for Cystic Fibrosis

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details. Identifier: NCT00014950
Recruitment Status : Completed
First Posted : April 16, 2001
Last Update Posted : March 2, 2010
National Center for Research Resources (NCRR)
Information provided by:
National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

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 Not Applicable

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Study Type : Interventional  (Clinical Trial)
Allocation: Randomized
Intervention Model: Single Group Assignment
Primary Purpose: Diagnostic
Official Title: Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

Resource links provided by the National Library of Medicine

Information from the National Library of Medicine

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Ages Eligible for Study:   1 Month to 21 Years   (Child, Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   No

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

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its identifier (NCT number): NCT00014950

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United States, Wisconsin
University of Wisconsin
Madison, Wisconsin, United States, 53706
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)
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Principal Investigator: Philip M. Farrell, MD, PhD Dean University of Wisconsin Medical School
OverallOfficial: Michael J. Rock, M.D. Dept. Pediatrics, UW Hospital
OverallOfficial: Mark Splaingard Children's Hospital and Health System Foundation, Wisconsin
OverallOfficial: Anita Laxova Dept. Pediatrics, UW Madison

Layout table for additonal information Identifier: NCT00014950    
Other Study ID Numbers: Farrell (completed)
R01DK034108 ( U.S. NIH Grant/Contract )
First Posted: April 16, 2001    Key Record Dates
Last Update Posted: March 2, 2010
Last Verified: March 2010
Keywords provided by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK):
Cystic Fibrosis
Immunoreactive trypsinogen
deltaF508- CFTR gene
newborn screening
Pseudomonas aeruginosa infection
pulmonary status
meconium ileus
Genetic counseling
risk communication
Additional relevant MeSH terms:
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Pseudomonas Infections
Cystic Fibrosis
Lung Diseases
Pathologic Processes
Pancreatic Diseases
Digestive System Diseases
Respiratory Tract Diseases
Genetic Diseases, Inborn
Infant, Newborn, Diseases
Gram-Negative Bacterial Infections
Bacterial Infections