Integrated Prospective and Retrospective Observational Study to Characterize Biomarkers and Disease Progression in Patients With Pelizaeus-Merzbacher Disease
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 32
- 试验地点
- 10
- 主要终点
- Assess Longitudinal Changes in Fluid Biomarkers
研究概览
简要总结
The purpose of the study is to prospectively assess longitudinal changes in proteolipid protein 1 (PLP1) protein, disease-related biomarkers in cerebral spinal fluid (CSF) and blood, neuroimaging parameters relevant to Pelizaeus-Merzbacher disease (PMD) and longitudinal changes in performance on clinical, participant, and caregiver-reported outcome assessments to inform the development of therapies for PMD.
详细描述
This is a multi-center, non-randomized, non-interventional integrated prospective and retrospective study in up to 32 participants with PMD who can undergo general anesthesia or conscious sedation (if necessary) to collect fluid biomarkers (CSF and blood), neuroimaging, and clinical assessments to be used in support of the development of therapies for PMD. The study duration for each participant will be approximately 26 months (Week 106).
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 6 Months 至 17 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •Participant has a parent or caregiver capable of providing informed consent (signed and dated) and able to attend all scheduled study visits and provide feedback regarding the participant's symptoms and performance as described in the protocol and be able to comply with all study requirements
- •Participant has a diagnosis of Pelizaeus-Merzbacher Disease with genetic confirmation of PLP1 duplication
- •Male, 6 months-17 years old, inclusive, at the time of informed consent and phenotype consistent with classic PMD
- •No contraindications for lumbar punctures (LPs), blood draws, neuroimaging, sedation (if necessary) or other study procedures
排除标准
- •Clinically significant abnormalities in medical history or physical examination
- •> 2 copies of the PLP1 gene
- •Have any other conditions, which, in the opinion of the investigator would make the participant unsuitable for inclusion, or could interfere with the participant taking part in or completing the study
研究组 & 干预措施
Pelizaeus-Merzbacher Disease Participants
Participants will undergo CSF collection and neuroimaging procedures, up to Week 106 as a part of prospective study. Each participant's medical and family history data will be collected retrospectively from available medical notes and charts, from birth up to the end of the study period (up to 26 months).
结局指标
主要结局
Assess Longitudinal Changes in Fluid Biomarkers
时间窗: Up to 26 months
Changes in Proteolipid Protein 1 (PLP1) in CSF and disease related biomarkers
Assess Longitudinal Changes in Neuroimaging Parameters
时间窗: Up to 26 months
Changes in regional brain volumes (MRI) and in brain metabolites (MRS)
Assess longitudinal changes in performance on clinical, and patient and caregiver-reported outcome assessments
时间窗: Up to 26 months
Includes collection of gross and fine motor outcomes, spasticity, dysphagia, cognition and behavior, and sleep.
次要结局
- Characterize health service utilization and economic and disease burden(Up to 26 months)