A Patient Registry and Natural History Study of Patients with Biallelic HPDL Mutations
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 50
- 试验地点
- 1
- 主要终点
- Clinician questionnaire
研究概览
简要总结
This study uses medical records that allow retrospective data extraction of clinical manifestation to assess the natural history of HPDL mutations
详细描述
A novel mitochondrial disease arises from mutations in HPDL, which codes for 4-hydroxyphenylpyruvate dioxygenase-like protein. The main purpose of this study is to establish a patient registry to gather medical data from consenting HPDL mutation patients worldwide. From longitudinal data, we will be able to figure out the natural history of the disease, and genotype-phenotype correlation. Dry blood spots will be collected to develop biomarkers to understand the disease better.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Retrospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Any individuals diagnosed with HPDL variants
- •Clinical diagnosis can include:
- •HPDL-related hereditary spastic paraplegia (HSP)
- •HPDL-related neonatal mitochondrial encephalopathy
- •Spastic paraplegia -83 (SPG83)
- •Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA)
排除标准
- •Any known genetic abnormality (other than HPDL mutation)
- •Any condition that, in the opinion of the Site Investigator, could put the participant at undue risk and/or would ultimately prevent the completion of study procedures
结局指标
主要结局
Clinician questionnaire
时间窗: 12 months
Clinician-reported clinical and genetic confirmation of HPDL mutations
次要结局
未报告次要终点
研究者
Joseph Gleeson
professor, neuroscience
University of California, San Diego