Epidemiology of Surfactant Protein-B Deficiency
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ClinicalTrials.gov Identifier: NCT00014859 |
Recruitment Status :
Completed
First Posted : April 12, 2001
Last Update Posted : April 29, 2024
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Condition or disease |
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Lung Diseases Respiratory Distress Syndrome, Newborn Pulmonary Surfactant Lung Diseases, Interstitial |
Study Type : | Observational [Patient Registry] |
Actual Enrollment : | 5176 participants |
Observational Model: | Case-Control |
Time Perspective: | Prospective |
Target Follow-Up Duration: | 4 Weeks |
Official Title: | Epidemiology of Surfactant Protein-B Deficiency |
Actual Study Start Date : | June 1, 2001 |
Actual Primary Completion Date : | April 26, 2024 |
Actual Study Completion Date : | April 26, 2024 |
Group/Cohort |
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Population-based cohort
Descriptive cohort of population-based DNA samples from the newborn screening program in Missouri with vital statistics based, linked phenotype data
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Trio sequencing cohort
Affected infant/child (term or near term infant with progressive respiratory distress or other rare pulmonary phenotype or older child with interstitial lung disease or other rare pulmonary phenotype) and parents
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- Statistical association of rare, functionally disruptive genomic variant with RDS [ Time Frame: 4 weeks ]Using trio whole exome or whole genome sequencing, next generation sequencing, and in silico prediction of function, discover statistical associations between gene loci with excess, rare, functionally disruptive variants and risk of neonatal respiratory distress syndrome.
- Statistical associations between risk of neonatal respiratory distress syndrome and excess, rare functional variants in gene pathways [ Time Frame: 4 weeks ]Using trio whole exome or whole genome sequencing, next generation sequencing, in silico prediction of functional variants, and Metacore for pathway construction, identify statistical associations between risk of neonatal respiratory distress syndrome and pathways with excess, rare functional variants
Biospecimen Retention: Samples With DNA
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Ages Eligible for Study: | up to 1 Year (Child) |
Sexes Eligible for Study: | All |
Accepts Healthy Volunteers: | Yes |
Sampling Method: | Non-Probability Sample |
Inclusion Criteria:
- Normal pulmonary function or a diagnosis of RDS
Exclusion Criteria:
- None
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 ClinicalTrials.gov identifier (NCT number): NCT00014859
United States, Missouri | |
Washington University School of Medicine | |
Saint Louis, Missouri, United States, 63110 |
Principal Investigator: | F. Sessions Cole, MD | Washington University School of Medicine |
Publications of Results:
Other Publications:
Responsible Party: | F. Sessions Cole, MD, Professor of Pediatrics, Washington University School of Medicine |
ClinicalTrials.gov Identifier: | NCT00014859 |
Obsolete Identifiers: | NCT00200915 |
Other Study ID Numbers: |
967 |
First Posted: | April 12, 2001 Key Record Dates |
Last Update Posted: | April 29, 2024 |
Last Verified: | April 2024 |
Individual Participant Data (IPD) Sharing Statement: | |
Plan to Share IPD: | No |
Plan Description: | All new variants will be deposited in public databases immediately after publication. |
Pulmonary surfactant Surfactant protein B Surfactant protein C |
ABCA3 NKX2-1 Alveolar type 2 cell |
Lung Diseases Respiratory Distress Syndrome Respiratory Distress Syndrome, Newborn Lung Diseases, Interstitial |
Respiratory Tract Diseases Respiration Disorders Infant, Premature, Diseases Infant, Newborn, Diseases |