# Optimizing Trial Readiness for Adrenomyeloneuropathy

> **NIH NIH U54** · CHILDREN'S HOSP OF PHILADELPHIA · 2020 · $634,715

## Abstract

Abstract
Leukodystrophies are rare inherited diseases that affect the white matter of the brain due to the loss or
absence of myelin, the lipid membrane that insulates axons in the nervous systems. Despite disparate
molecular etiologies, similar functional impairments are common across these disorders and generally
appear to associate with disease progression. Nevertheless, clinical outcome assessments (COA) are
critically lacking, with very few validated tools available for use in clinical trials. This proposal will advance
the clinical trial readiness of leukodystrophy by creating a trial-ready tool-box and multi-center data
integration systems. Further, the project will catalyze ongoing efforts of the leukodystrophy community by
bringing together more than a dozen patient advocacy groups, industry stakeholders, and two pre-
existing leukodystrophy consortia. Using this framework, we will assess the validity of existing clinical
outcome assessment tools in leukodystrophy (Aim 1). We will also deploy patient reported outcome
measures to better understanding of the progression of leukodystrophies (Aim 2). Finally, we will deploy
integrative technologies leveraging the electronic medical record (EMR) to identify and categorize natural
history data contributing to a data-driven phenotype of leukodystrophies (Aim 3). Methodologies will undergo
face validation, inter-rater reliability, reproducibility, longitudinal stability, internal validation and construct
validity under the careful oversight of our data integration core and advocacy partners. Our anticipated
impact is to define the best tools to understand natural history in individuals with leukodystrophy. This
longitudinal study will provide a body of data and management approaches that will inform and empower our
companion projects and future goals of the scientific, advocacy and commercial stakeholders in the
leukodystrophies.

## Key facts

- **NIH application ID:** 10023209
- **Project number:** 5U54NS115052-02
- **Recipient organization:** CHILDREN'S HOSP OF PHILADELPHIA
- **Principal Investigator:** Adeline Lucie Vanderver
- **Activity code:** U54 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $634,715
- **Award type:** 5
- **Project period:** 2019-09-30 → 2024-06-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10023209

## Citation

> US National Institutes of Health, RePORTER application 10023209, Optimizing Trial Readiness for Adrenomyeloneuropathy (5U54NS115052-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10023209. Licensed CC0.

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