Cystic FibrosisNCT00014950
Benefits and Risks of Newborn Screening for Cystic Fibrosis
A study testing CF newborn screening in people with Cystic Fibrosis and Lung Disease, run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at 2 sites in United States.
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. Read more about this study
- Who is it for?
- Ages 1 month to 21 years
- Conditions the study is for
- Cystic Fibrosis, Lung Disease, Pseudomonas Infections
- What is being tested?
- CF newborn screening
- Type of treatment
- Surgery or procedure
- How many people
- Not given
- Where
- 2 sitesUnited States
- Study dates
- Start not givento not given
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 1 month to 21 years
- All sexes
- No healthy volunteers
- Child, Adult
Who may be able to join
- 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
Who cannot join
None listed.
Trial locations and contacts
2 sites in 1 country.
United States2 sites
University of Wisconsin
Madison, Wisconsin, 53706
Children's Hospital of Wisconsin
Milwaukee, Wisconsin, 53201
About this study
Official title: Pulmonary Benefits of Cystic Fibrosis Neonatal Screening
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.
- Conditions
- Cystic Fibrosis, Lung Disease, Pseudomonas Infections
- Being tested
- CF newborn screening
- Keywords
- Cystic Fibrosis, Immunoreactive trypsinogen, deltaF508- CFTR gene, newborn screening, Pseudomonas aeruginosa infection, nutrition, pulmonary status, meconium ileus, growth, Genetic counseling, risk communication
- Medical subject headings
- Cystic Fibrosis, Lung Diseases, Pseudomonas Infections, Meconium Ileus
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
CF newborn screeningProcedure or surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Apr 2001 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (6)Papers the sponsor has linked to this study.
- Other trials for Cystic FibrosisStudies of the same condition, open and under way.
- More trials run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)The sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Single group
Sponsor and investigators
- Sponsor type
- US National Institutes of Health
- Collaborators
- National Center for Research Resources (NCRR)
- Investigators
- Philip M. Farrell, MD, PhD, Principal investigator, Dean University of Wisconsin Medical SchoolMichael J. Rock, M.D., Dept. Pediatrics, UW HospitalMark Splaingard, Children's Hospital and Health System Foundation, WisconsinAnita Laxova, Dept. Pediatrics, UW Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT00014950
- Sponsor's protocol ID
- Farrell (completed)
- Other IDs
- R01DK034108, GCRC
- Status last verified
- Mar 2010
- First submitted
- 14 Apr 2001
- Last updated
- 2 Mar 2010
- Results posted
- No
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. doi: 10.1016/s0140-6736(79)90825-0.
PubMed 85057Neonatal screening for cystic fibrosis: position paper. Pediatrics. 1983 Nov;72(5):741-5. No abstract available.
PubMed 6634283Fost 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.
PubMed 2673641Farrell 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. doi: 10.1056/NEJM199710023371403.
PubMed 9395429Farrell 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.
PubMed 10959441Farrell 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. doi: 10.1542/peds.107.1.1.
PubMed 11134427
Study at a glance
From the registry record, last updated by the sponsor on 2 Mar 2010. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pulmonary Benefits of Cystic Fibrosis Neonatal Screening
- ClinicalTrials.gov ID
- NCT00014950
- Acronym / sponsor ID
- Farrell (completed)
- Conditions
- Cystic Fibrosis, Lung Disease, Pseudomonas Infections
- Keywords
- Cystic Fibrosis, Immunoreactive trypsinogen, deltaF508- CFTR gene, newborn screening, Pseudomonas aeruginosa infection, nutrition, pulmonary status, meconium ileus
- Study type
- Interventional
- Recruitment status
- Completed
- Lead sponsor
- National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK)US National Institutes of Health
- Collaborators
- National Center for Research Resources (NCRR)
- First posted
- 16 Apr 2001 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Randomised
- Intervention model
- Single group
Who may qualify
- Ages
- 1 month to 21 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (0 listed)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| CF newborn screening | Procedure or surgery | – |
Primary outcome
Not reported in the source record.
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 2 Mar 2010.
- Background: PubMed 85057Crossley JR, Elliott RB, Smith PA. Dried-blood spot screening for cystic fibrosis in the newborn. Lancet. 1979 Mar 3;1(8114):472-4. doi: 10.1016/s0140-6736(79)90825-0.
- Background: PubMed 6634283Neonatal screening for cystic fibrosis: position paper. Pediatrics. 1983 Nov;72(5):741-5. No abstract available.
- Background: PubMed 2673641Fost 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.
- Background: PubMed 9395429Farrell 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. doi: 10.1056/NEJM199710023371403.
- Background: PubMed 10959441Farrell 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.
- Background: PubMed 11134427Farrell 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. doi: 10.1542/peds.107.1.1.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Philip M. Farrell, MD, PhD principal investigator
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
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing CF newborn screening in people with Cystic Fibrosis and Lung Disease, run by National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) at 2 sites in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 0 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 2 Mar 2010. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT00014950, which also lists 6 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 2 Mar 2010.