How Identification at Birth Improves the Health of Children
Immediate pediatric benefits, plus honest labeling of cancer research questions
By Mark Egly Foundation
Research status: Investigational / hypothesis
Last reviewed: September 28, 2026
Research hypothesis. Mechanistic links between Alpha-1 Antitrypsin (AAT), neutrophil proteases, and cancer biology on this page are investigational. They are not established medical fact and are not medical advice. Do not read this page as a claim that a heel stick prevents leukemia or any childhood cancer.
Foundation priority includes childhood cancers. That priority does not mean newborn screening prevents cancer by itself. Screening identifies children so clinicians can measure, monitor, and study what would otherwise stay invisible.
This page is education and advocacy. Adult labeled uses of plasma AAT do not include routine neonatal augmentation or childhood-cancer prevention. US20220160847A1 is published or pending. It is not a license to treat newborns for cancer.
Immediate pediatric benefits that do not need a new drug
Identification at birth improves care pathways that already exist:
- Liver surveillance for Pi*ZZ and other severe genotypes
- Faster cholestasis differential versus biliary atresia
- Attention to fat-soluble vitamins when cholestasis or liver injury is present
- Immunization planning with the child's clinicians
- Smoke-free homes and never-start-smoking counseling for the child and household
- A written care plan before preschool, so schools and caregivers know the diagnosis
These steps do not require a new drug approval. They require knowing who has AATD.
Childhood cancers: what is reported, what is hypothesis
Association evidence (epidemiology)
A Danish 2024 nationwide cohort associated AATD with increased hepatic cancer, skin cancer, and leukemia versus controls (Korsbæk et al., Journal of Internal Medicine). Association is not proof that screening prevents those cancers.
Mechanistic hypothesis (label: research hypothesis)
Researchers have proposed pathways that remain investigational:
- Unopposed neutrophil elastase (NE), proteinase 3 (PR3), and cathepsin G (CG)
- Cleavage of IGFBP-3
- 2022 preclinical work in which AAT blocked IGFBP-3 proteolysis and reduced colitis-associated colon cancer (Park et al., IJMS)
- Neutrophil extracellular traps (NETs) in leukemia research
- Thrombospondin-1 (TSP-1) protease sensitivity
These ideas motivate research funding and careful birth-cohort registries. They do not authorize treating newborns with plasma AAT for cancer prevention.
Patent status
US20220160847A1 is a published or pending disclosure. It is not FDA approval and not a license to treat newborns for cancer.
Why screening still belongs
You cannot measure or intercept what you never diagnose. Birth cohorts feed registries, family cascade testing, and future trial readiness. Screening is identification. It is not a promise that a heel stick prevents leukemia.
Disclaimer
Educational content and advocacy only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.
Sources and references
References checked September 28, 2026
- Alpha-1 antitrypsin deficiency (MedlinePlus Genetics (NIH))Research status: Established clinical knowledge
- Alpha-1 Foundation clinical and patient education resources (Alpha-1 Foundation)Research status: Established clinical knowledge
- Cancer prevention and screening (general public education) (National Cancer Institute)Research status: Established clinical knowledgeUsed for established oncology prevention framing, not AAT cancer claims.
- Method of Preventing and/or Treating a Plurality of Diseases (Mark Egly patent disclosure summary) (Mark Egly Foundation patent overview)Research status: Investigational / hypothesisPrimary source for Mark Egly research hypotheses. Not peer-reviewed clinical evidence. Confirm USPTO application number with counsel before citing externally.
Educational content only. Not a diagnosis or treatment plan. Work with your clinician for personal medical decisions.