Benefits and Risks of Newborn Screening for Cystic Fibrosis

Cystic Fibrosis Clinical Trial

Official title:

Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT00014950
• Other study ID #: Farrell (completed)
• Secondary ID: RO1DK34108GCRC
• Status: Completed
• Phase: N/A
• First received: April 14, 2001
• Last updated: March 1, 2010

Study information

• Verified date: March 2010
• Source: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)
• Contact: n/a
• Is FDA regulated: No
• Health authority: United States: Federal Government
• Study type: Interventional

Clinical Trial 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.

Recruitment information / eligibility

• Status: Completed
• Enrollment: 0
• Accepts healthy volunteers: No
• Gender: Both
• Age group: 1 Month to 21 Years

Eligibility

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

Study Design

Allocation: Randomized, Intervention Model: Single Group Assignment, Primary Purpose: Diagnostic

Related Conditions & MeSH terms

• Cystic Fibrosis
• Fibrosis
• Lung Disease
• Lung Diseases
• Pseudomonas Infections

Intervention

Procedure:
• CF newborn screening

Locations

Country	Name	City	State
United States	University of Wisconsin	Madison	Wisconsin
United States	Children's Hospital of Wisconsin	Milwaukee	Wisconsin

Sponsors (2)

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

Country where clinical trial is conducted

United States, 

References & Publications (6)

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

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. — View Citation

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. — View Citation

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. — View Citation

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. — View Citation

Neonatal screening for cystic fibrosis: position paper. Pediatrics. 1983 Nov;72(5):741-5. — View Citation