ALD Healthy Planet Project
ALD 健康星球计划
基本信息
- 批准号:10851183
- 负责人:
- 金额:$ 51.2万
- 依托单位:
- 依托单位国家:美国
- 项目类别:
- 财政年份:2019
- 资助国家:美国
- 起止时间:2019-09-30 至 2025-06-30
- 项目状态:未结题
- 来源:
- 关键词:Adrenal gland hypofunctionAdrenoleukodystrophyAdrenomyeloneuropathyBrain imagingCerebrumCessation of lifeChild HealthChildhoodClinicalClinical ResearchClinical Trials NetworkCodeCollaborationsComplexDataData CollectionDiseaseDistrict of ColumbiaEarly DiagnosisElectronic Health RecordEndocrinologyEnsureEnvironmentFundingFutureGenerationsGuidelinesHealth Services AccessibilityHealthcare SystemsInfrastructureInstitutional Review BoardsInterventionLifeManualsMeasuresMedical Care TeamMonitorNatural HistoryNeonatal ScreeningOutcomePediatric HospitalsPeroxisomal DisordersPhasePhenotypePhiladelphiaPlanetsPopulationProtocols documentationRare DiseasesRecommendationResourcesRiskSafetySiteSystemTestingWorkboysdashboarddata pipelinedisabilityearly screeningevidence basefamily burdenfollow-uphealth equityimprovedleukodystrophynon-complianceprogramsscreening guidelinesscreening panelscreening programstandard of caresuccesstool
项目摘要
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.
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,其特征为三个不同的特征:
表型:脑 ALD (cALD)、肾上腺脊髓神经病 (AMN) 和阿狄森氏病(肾上腺功能不全或
人工智能)。 2016年,ALD被添加到推荐统一筛查小组(RUSP)中,并已被
迄今为止已在 36 个州和华盛顿特区实施。 ALD 对新生儿筛查提出了独特的挑战
跟进。虽然 cALD 和 AI 的治疗是有效且可以挽救生命的,但只有在出现问题后才能实施
是疾病参与的证据。就 cALD 而言,干预窗口很窄且有限
到疾病的最早阶段。这带来了一个重大挑战——通过新生儿筛查识别出男孩
必须在整个童年时期密切关注连续脑成像和内分泌测试。
迫切需要一个严格的自动化系统来跟踪建议的遵守情况,但这一需求尚未得到满足
后续测试。我们将利用我们现有的全球罕见病临床研究网络 (RDCRN)
脑白质营养不良倡议临床试验网络(GLIA-CTN;U54TR002823)部署该系统并测量
它的功效。在目标 1 中,最初开发 ALD 的 CHOP Healthy Planets EPIC 编程团队
与 CHOP 脑白质营养不良中心合作的监测仪表板将与当地合作
亚特兰大儿童医院、斯坦福儿童健康中心和肯尼迪克里格研究所的 EPIC 程序员,
共享代码并促进 CHOP 系统适应当地 EPIC 环境。预期的
成果是一个功能性 ALD 监控仪表板和一本关于如何使用此方法的开放获取手册
更广泛地实施到其他站点。在目标 2 中,我们将建立数据收集管道来建立
数据驱动的监测指南。利用 GLIA 内现有的电子健康记录计划
CTN,我们将建立集中化 ALD 监控的数据管道。我们将收集和整理数据
跨 GLIA-CTN 实施站点。预期的结果是精心策划的数据管道和生成
试点数据以了解现有监测指南是否适合新生儿后筛查 ALD
人口。预期结果是生成建立基于证据的必要数据收集工具
新生儿筛查指南。
虽然早期检测和突破性疗法已经改变了 ALD 领域,但仍有一个
迫切需要系统来监测长期监测需求的遵守情况,但这一需求尚未得到满足。该管道可以支持
症状前自然史研究并建立数据驱动的护理监测指南标准。
拟议的工作在临床上是必要的,并将有助于支持未来的假设驱动的工作。这
该战略有可能改善健康公平,确保获得护理的机会减少并不等于
安全性和监控能力下降。此外,一般方法可以适用于其他新生儿筛查
计划和具有复杂纵向监测需求的罕见疾病。
项目成果
期刊论文数量(18)
专著数量(0)
科研奖励数量(0)
会议论文数量(0)
专利数量(0)
Novel biallelic variants in NRROS associated with a lethal microgliopathy, brain calcifications, and neurodegeneration.
- DOI:10.1007/s10048-022-00683-8
- 发表时间:2022-04
- 期刊:
- 影响因子:2.2
- 作者:
- 通讯作者:
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.
- DOI:10.1177/08830738231188753
- 发表时间:2023-08
- 期刊:
- 影响因子:1.9
- 作者:
- 通讯作者:
Hepatic Involvement in Aicardi-Goutières Syndrome.
- DOI:10.1055/s-0040-1722673
- 发表时间:2021-12
- 期刊:
- 影响因子:1.4
- 作者:Gavazzi F;Cross ZM;Woidill S;McMann JM;Rand EB;Takanohashi A;Ulrick N;Shults J;Vanderver AL;Adang L
- 通讯作者:Adang L
Adrenal insufficiency updates in children.
儿童肾上腺功能不全的最新进展。
- DOI:10.1097/med.0000000000000591
- 发表时间:2021
- 期刊:
- 影响因子:0
- 作者:RamirezAlcantara,Jonanlis;Halper,Alyssa
- 通讯作者:Halper,Alyssa
National U.S. Patient and Transplant Data for Krabbe Disease.
- DOI:10.3389/fped.2021.764626
- 发表时间:2021
- 期刊:
- 影响因子:2.6
- 作者:Ghabash G;Wilkes J;Bonkowsky JL
- 通讯作者:Bonkowsky JL
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{{ truncateString('FLORIAN S EICHLER', 18)}}的其他基金
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
10704432 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
Myelin Disorders Biorepository Project (MDBP) at the Biospecimen Exchange for Neurological Disorders (BioSEND)
神经疾病生物样本交换中心 (BioSEND) 的髓磷脂疾病生物储存库项目 (MDBP)
- 批准号:
10850332 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
Utility of advanced MRI and wearable technology to identify sensory motor outcome measures in leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
利用先进的 MRI 和可穿戴技术来确定脑干和脊髓受累以及乳酸升高 (LBSL) 的白质脑病的感觉运动结果测量
- 批准号:
10406744 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
9804283 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
10266084 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
10675461 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
10442668 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
The Global Leukodystrophy Initiative Clinical Trials Network (GLIA-CTN)
全球脑白质营养不良倡议临床试验网络 (GLIA-CTN)
- 批准号:
10023202 - 财政年份:2019
- 资助金额:
$ 51.2万 - 项目类别:
Safety, Tolerability and Biological Activity of L-serine in HSAN1.
HSAN1 中 L-丝氨酸的安全性、耐受性和生物活性。
- 批准号:
8720080 - 财政年份:2013
- 资助金额:
$ 51.2万 - 项目类别:
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