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Improved Outcome Assessments in Adrenomyeloneuropathy

改进肾上腺脊髓神经病的结果评估

基本信息

批准号：
10675469
负责人：
Adeline Lucie Vanderver
金额：
$ 16.55万
依托单位：
CHILDREN'S HOSP OF PHILADELPHIA
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：
https://reporter.nih.gov/project-details/10675469
关键词：
Address Adrenoleukodystrophy Adrenomyeloneuropathy Adult Advocacy Affect Ataxia Awareness Basic Science Biochemical Markers Bladder Dysfunction Brain Caring Cerebrum Childhood Clinical Research Clinical Trials Clinical Trials Network Collaborations Companions Data Dedications Development Disease Disease Progression Equilibrium Federal Government Female Functional disorder Future Gait Gait abnormality General Hospitals Genes Heterozygote Home Individual Intervention Intestines Knowledge Laboratories Letters Link Massachusetts Measures Motion Mutation Nature Neonatal Screening Nervous System Neurologic Outcome Outcome Assessment Outcome Measure Pathogenicity Pathology Patient Outcomes Assessments Patients Performance Peripheral Nerves Peripheral Nervous System Diseases Persons Phenotype Population Recommendation Reproducibility Research Subjects Sample Size Sensory Ataxias Series Site Spastic Paraparesis Spinal Cord Spinal Cord Column Spinal Cord Diseases System Technology Testing Therapeutic Time Validation Very Long Chain Fatty Acid Walking clinical development clinical outcome assessment clinical trial readiness disability dorsal column effectiveness testing improved improved outcome industry partner leukodystrophy male nervous system disorder novel rate of change recruit remote assessment technology platform tool treatment response walking speed wearable device

项目摘要

Abstract X-linked adrenoleukodystrophy (ALD), a debilitating neurological disorder caused by mutations in the ABCD1 gene, is one of the few leukodystrophies for which newborn screening is available and recommended by the federal government. Adult-onset Adrenomyeloneuropathy (AMN) is the most common phenotype of ALD, as adult males with pathogenic changes in ABCD1 and more than half of female ALD heterozygotes develop AMN over time. Despite advances in the treatment for the childhood onset cerebral form of ALD, no treatment is currently available for AMN. Additionally, the slow and variable rate of disease progression and lack of understanding of clinical outcome assessments (COA) hamper AMN clinical trial readiness. In order to address this critical gap in knowledge, we propose to identify novel tools for clinical outcome assessment in AMN. We collaborate with ALD Connect (see letter of support), a consortium dedicated to improving care and treatment for ALD and AMN. Together, we have established an adult AMN rating scale. Based on concurrent data collected in Project 1 that will determine the rate of change and relationships among patient reported outcomes (PRO) and COA such as walking speed, we will validate this tool and assess its use in capturing disease progression (Aim 1). Additionally, we propose to conduct studies at two expert AMN motion analysis laboratories to assess whether advanced force plate measures of ataxia are of utility as assessments in this condition (Aim 2). Finally, we have obtained pilot data showing that key metrics of ataxia, sway amplitude and gait variables, can be assessed remotely using wearable technology. We propose to assess whether wearable devices are of utility as assessments of ataxia in this condition (Aim 3). The results of this project will be vital for the facilitation of clinical studies for therapies that are currently under development for adults with AMN.

摘要