Benefits and Risks of Newborn Screening for Cystic Fibrosis - Tabular View

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Benefits and Risks of Newborn Screening for Cystic Fibrosis

This study has been completed.
Information provided by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)

This Tabular View shows the required WHO registration data elements as marked by ^†

Descriptive Information Fields

Brief Title ^†

Benefits and Risks of Newborn Screening for Cystic Fibrosis

Official Title ^†

Pulmonary Benefits of Cystic Fibrosis Neonatal Screening

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.

Detailed Description

Study Phase

Study Type ^†

Interventional

Study Design ^†

Diagnostic, Randomized, Single Group Assignment

Primary Outcome Measure ^†

Secondary Outcome Measure ^†

Condition ^†

Cystic Fibrosis
Lung Disease
Pseudomonas Infections

Intervention ^†

Procedure: CF newborn screening

MEDLINE PMIDs

85057, 6634283, 2673641, 9395429, 10959441, 11134427

Links

Recruitment Information Fields

Recruitment Status ^†

Completed

Enrollment ^†

Start Date ^†

Completion Date

Eligibility 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

Gender

Both

Ages

1 Month to 21 Years

Accepts Healthy Volunteers

Contacts ^††

Location Countries ^†

United States

Administrative Information Fields

NCT ID ^†

NCT00014950

Organization ID

Farrell

Secondary IDs ^††

RO1DK34108, GCRC

Study Sponsor ^†

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

Collaborators ^††

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

Information Provided By

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

Verification Date

October 2003

First Received Date ^†

April 14, 2001

Last Updated Date

June 23, 2005

^† Required WHO trial registration data element.
^†† WHO trial registration data element that is required only if it exists.