Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) - Natural History Study Pilot
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 11
- 主要终点
- Synchronize collaborations between institutions and clinical sites through a central research protocol to standardize outcome measures and maximize the quality of research and data to ensure clinical trial readiness by regulatory standards.
研究概览
简要总结
The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). Aims of the consortium are to a) perform natural history studies of HSP subtypes, b) discover and validate biomarkers and clinician- and patient-reported outcome measures, c) uncover HSP's molecular pathophysiology and develop rational therapeutic targets, and d) perform sufficiently powered clinical trials. The current pilot study is aimed at enrolling 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A).
详细描述
The hereditary spastic paraplegias (HSPs) include over 80 rare neurogenetic disorders, collectively representing the most prevalent cause of inherited spasticity and related disabilities globally. In all forms of HSP, there is a progressive deterioration of the long axonal tracts, resulting in substantial motor dysfunction and various other symptoms. Primary lateral sclerosis (PLS) is a related, degenerative neurological disorder characterized by the progressive deterioration of upper motor neurons. Both conditions result in muscle weakness and spasticity, with significant morbidity and impact on quality of life.
The Spastic Paraplegia - Centers of Excellence Research Network (SP-CERN) is a collaborative research consortium dedicated to advancing the understanding, diagnosis, and treatment of hereditary spastic paraplegia (HSP) and primary lateral sclerosis (PLS). SP-CERN provides a registry and natural history study across the whole age span, a biobank, and a genome archive. This will set the stage for a multitude of opportunities for improved diagnosis and trial readiness. A second objective is to harmonize this effort with similar consortia, especially in Europe, in addition to Asia, South America, and Africa, to help accelerate basic and clinical research on HSP and PLS on a global level. In summary, SP-CERN will support critical research infrastructure for collaborative high-quality research on HSP and PLS in North America and beyond.
General aims include:
A. Establish a shared clinical database, a repository of biospecimen samples, and a central database for the storage of all genetic data in SP-CERN.
B. Synchronize and harmonize collaborations between institutions, clinical sites, and international collaborators through the development of a central research protocol in order to standardize outcome measures and maximize the quality of research and data to ensure clinical trial readiness by regulatory standards.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female patients of all ages with a clinical and molecular diagnosis of hereditary spastic paraplegia type 4 (SPG4, SPAST) or hereditary spastic paraplegia type 5A (SPG5A, CYP7B1).
排除标准
- •Not having such a diagnosis and/or not being related to such individual.
结局指标
主要结局
Synchronize collaborations between institutions and clinical sites through a central research protocol to standardize outcome measures and maximize the quality of research and data to ensure clinical trial readiness by regulatory standards.
时间窗: 2 years
Test key elements in pilot projects
时间窗: 2 years
Establish a shared clinical database, biobank of biospecimen samples, and a central repository for the storage of all genetic data in SP-CERN.
时间窗: 2 years
Build comprehensive programs for advancements in diagnosis, provide more opportunities for innovative treatments, and increase access to high-quality healthcare for HSP and PLS patients.
时间窗: 2 years
次要结局
- Biobanking of blood samples from 100 individuals with SPG4 or SPG5A in a shared biobank.(2 years)
- Enrollment of 100 individuals with hereditary spastic paraplegia type 4 (SPG4) or hereditary spastic paraplegia type 5A (SPG5A) in the shared clinical database.(2 years)
研究者
Darius Ebrahimi-Fakhari
Principal Investigator
Boston Children's Hospital