Benefits and Risks of Newborn Screening for Cystic Fibrosis - Full Text View

Purpose

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	Intervention
Cystic Fibrosis Lung Disease Pseudomonas Infections	Procedure: CF newborn screening

Genetics Home Reference related topics:

Lung Diseases cystic fibrosis

MedlinePlus related topics:

Cystic Fibrosis Newborn Screening

ChemIDplus related topics:

Cystic fibrosis transmembrane conductance regulator

U.S. FDA Resources

Study Type:	Interventional
Study Design:	Diagnostic, Randomized, Single Group Assignment

Official Title:	Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

Eligibility

Ages Eligible for Study:	1 Month to 21 Years
Genders Eligible for Study:	Both
Accepts Healthy Volunteers:	No

Criteria

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

Please refer to this study by its ClinicalTrials.gov identifier: NCT00014950

Locations


United States, Wisconsin
	University of Wisconsin
	Madison, Wisconsin, United States, 53706
	Children's Hospital of Wisconsin
	Milwaukee, Wisconsin, United States, 53201
	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

Investigator:	Michael J. Rock, M.D.	Dept. Pediatrics, UW Hospital

Investigator:	Mark Splaingard	Children's Hospital and Health System Foundation, Wisconsin

Investigator:	Anita Laxova	Dept. Pediatrics, UW Madison

More Information

Publications:

Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979 Mar 3;1(8114):472-4.

[No authors listed] Neonatal screening for cystic fibrosis: position paper. Pediatrics. 1983 Nov;72(5):741-5. No abstract available.

Fost N, Farrell PM. A prospective randomized trial of early diagnosis and treatment of cystic fibrosis: a unique ethical dilemma. Clin Res. 1989 Sep;37(3):495-500. No abstract available.

Farrell PM, Kosorok MR, Laxova A, Shen G, Koscik RE, Bruns WT, Splaingard M, Mischler EH. Nutritional benefits of neonatal screening for cystic fibrosis. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. N Engl J Med. 1997 Oct 2;337(14):963-9.

Farrell PM. Improving the health of patients with cystic fibrosis through newborn screening. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Adv Pediatr. 2000;47:79-115. No abstract available.

Farrell PM, Kosorok MR, Rock MJ, Laxova A, Zeng L, Lai HC, Hoffman G, Laessig RH, Splaingard ML. Early diagnosis of cystic fibrosis through neonatal screening prevents severe malnutrition and improves long-term growth. Wisconsin Cystic Fibrosis Neonatal Screening Study Group. Pediatrics. 2001 Jan;107(1):1-13.

Study ID Numbers:	Farrell, RO1DK34108, GCRC
First Received:	April 14, 2001
Last Updated:	June 23, 2005
ClinicalTrials.gov Identifier:	NCT00014950
Health Authority:	United States: Federal Government

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

nutrition

pulmonary status

meconium ileus

growth

Genetic counseling

risk communication

Study placed in the following topic categories:

Ileus

Cystic Fibrosis

Pseudomonas Infections

Fibrosis

Lung Diseases

Pancreatic Diseases

Cystic fibrosis

Gram-Negative Bacterial Infections

Additional relevant MeSH terms:

Bacterial Infections

Pathologic Processes

Digestive System Diseases

Genetic Diseases, Inborn

Respiratory Tract Diseases

Infant, Newborn, Diseases

Infection

ClinicalTrials.gov processed this record on July 03, 2008

Sponsors and Collaborators:	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) National Center for Research Resources (NCRR)
Information provided by:	National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
ClinicalTrials.gov Identifier:	NCT00014950