Critical Data Types:
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Genotype-Phenotype Correlations: Detailed mapping of clinical variability specifically tied to the 2184insA mutation.
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Functional Protein Studies: Empirical characterization of frameshift consequences, including loss of function and potential truncated peptide production.
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Modifier Gene Data: Comprehensive studies on modifier genes like TGF-β1 and MBL2, especially their interaction effects in compound heterozygotes.
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Sodium Channel Interaction Data: Electrophysiological and ion-transport measurements relevant to ENaC and CFTR crosstalk dysfunction.
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Pancreatic Function Data: Quantitative assessment of pancreatic sufficiency or insufficiency, stratified by age, ethnicity, and co-mutations.
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Regional Allele Frequency Distributions: Allelic prevalence patterns with emphasis on North America, Europe, and underrepresented populations.
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Therapeutic Outcome Reports: Efficacy metrics for experimental Class I mutation treatments, including stop codon readthrough strategies.
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Historical Diagnostic Panel Presence: Chronology of inclusion/exclusion across diagnostic testing panels from 1990 to present.
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Patient-Reported Outcomes: Where possible, aggregate qualitative data to augment clinical indicators of disease burden.
Data Sources:
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Clinical trial registries (e.g., ClinicalTrials.gov, EU Clinical Trials Register)
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Peer-reviewed journals (1990–present)
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Conference proceedings from NACFC, ECFS, and relevant symposia
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De-identified patient registry datasets (e.g., CF Foundation Patient Registry)