ALD Healthy Planet Project

x连锁肾上腺脑白质营养不良（ALD）是一种致命的过氧化物酶体疾病，其特征有三种不同

X-linked adrenoleukodystrophy (ALD) is a fatal peroxisomal disorder characterized by three distinct phenotypes: cerebral ALD (cALD), adrenomyeloneuropathy (AMN), and Addison’s only (adrenal insufficiency or AI). In 2016, ALD was added to the Recommended Uniform Screening Panel (RUSP), and it has been implemented to date in 36 states and Washington DC. ALD poses a unique challenge in newborn screening follow up. While treatments for cALD and AI are effective and life-saving, they are only implemented once there is evidence of disease involvement. In the case of cALD, there is a narrow window for intervention that is limited to the earliest phase of disease. This has created a major challenge—boys identified via newborn screening must be intensely followed throughout childhood by serial brain imaging and by endocrinologic testing. There is an urgent unmet need for a rigorous automated system to track compliance with recommended follow up testing. We will leverage our existing Rare Diseases Clinical Research Network (RDCRN) Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN; U54TR002823) to deploy this system and measure its efficacy. In Aim 1, the CHOP Healthy Planets EPIC programming team, who originally developed the ALD monitoring dashboard in collaboration with the CHOP Leukodystrophy Center of Excellence will work with local EPIC programmers at Children’s Hospital of Atlanta, Stanford Children’s Health, and Kennedy Krieger Institute, sharing code and facilitating the adaptation of the CHOP system to local EPIC environments. The expected outcome is a functional ALD monitoring dashboard and an open-access manual on how this approach can be more broadly implemented to additional sites. In Aim 2, we will establish the data collection pipeline to establish data-driven monitoring guidelines. Leveraging the existing electronic health records program within the GLIA- CTN, we will establish the data pipeline for centralization of ALD-monitoring. We will collect and curate the data across the GLIA-CTN implementation sites. The expected outcome is a curated data pipeline and generation of pilot data to understand if existing monitoring guidelines are appropriate for a post newborn screening ALD population. The expected outcome is generation of data collection tool necessary to establish evidence-based post newborn screening guidelines. While the ALD field has been transformed by early detection and ground-breaking therapies, there is an urgent, unmet need for system to monitor compliance with long term monitoring needs. This pipeline can support presymptomatic natural history studies and establish standard of care monitoring guidelines that are data-driven. The proposed work is both clinically necessary and will help to support future hypothesis-driven work. This strategy has the potential to improve health equity, ensuring that decreased access to care does not equal decreased safety and monitoring. Additionally, the general approach can be adapted to other newborn screening programs and rare disorders with complex longitudinal monitoring needs.