STOP-HSP.Net: a Registry for Hereditary Spastic Paraplegia as an Integration Tool for Future Therapeutic Strategies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Establishment of the STOP-HSP.net disease registry to systematically document the clinical presentation and natural history of patients affected by both pediatric-onset and adult-onset HSP
研究概览
简要总结
Our goal is to create a solid and harmonious disease registry of patient affected by hereditary spastic paraplegia (HSP) that facilitates the collection and management of patients' data over time encouraging the research and the development of future clinical trials. In-depth clinical phenotyping will develop significant clinical outcome measures that can be used in clinical trials and will allow the phenotypic complexity of the disease to be captured with the use of validated clinical scales, biomarkers and so-called patient reported outcomes (PROs).
详细描述
The registry will involve five recruiting clinical centres (IRCCS Fondazione Stella Maris in Pisa, IRCCS Eugenio Medea in Conegliano, IRCCS Policlinico Gemelli in Rome, IRCCS Istituto di Scienze Neurologiche in Bologna, Università degli studi di Messina) and a data analysis partner (CINECA).
Participants will be assessed annually at one of the five participating clinical sites. For each patient, at least one follow-up visit will be scheduled at an interval of 12 months in order to monitor and compare the longitudinal progression of HSP in similar groups (for example based on phenotype, age at onset, or genotype). At each visit all enrolled subjects will carry out a clinical-instrumental evaluation as per clinical practice, including: anamnestic collection, general and neurological objective examination; administration of illness scales (e.g. the SPRS scale) and quality of life questionnaires. Any biological samples will be collected as tissues, blood or urine and stored in the laboratories or bio-repositories of the individual centers and also reported in the electronic clinical report form (CRF) of STOP-HSP.net. The results of further diagnostic tests carried out such as Optical coherence tomography (OCT), brain magnetic resonance imaging (MRI) or neurophysiology performed during diagnostic practice or clinical follow up will also be collected. Any further clinical scales/evaluation questionnaires to be administered will be selected according to clinical need based on the neurological characteristics and genotype of each participant. All data relating to further instrumental and/or neurophysiological investigations carried out by the patient for clinical needs will also be collected.
The data collected during the aforementioned clinical-instrumental-laboratory evaluations will be entered into the STOP-HSP.net register in pseudonymized form.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Other
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •clinical diagnosis of pure or complex HSP/spastic ataxia, even in the absence of a known genetic diagnosis
- •participants/parents/legal guardians will have to give informed consent for enrollment in the registry and privacy data management
排除标准
- •subjects affected by secondary forms of HSP
- •presenting comorbidities that affect the general clinical picture according to clinical judgment
- •lack of informed consent
结局指标
主要结局
Establishment of the STOP-HSP.net disease registry to systematically document the clinical presentation and natural history of patients affected by both pediatric-onset and adult-onset HSP
时间窗: five years
Definition of genotype-specific disease progression measured by evaluating the scores of the clinical scale "Spastic Paraplegia Rating Scale" (SPRS)
时间窗: five years
Spastic Paraplegia Rating Scale (SPRS) is a 13-item scale designed to rate motor impairment in pure or complex forms of spastic paraplegia. Its score varies from 0 to 52, whereas higher scores indicate greater motor impairment.
Identification of new genetic forms of HSP through the use of Whole Genome Sequencing (WGS) in selected familial cases
时间窗: five years
次要结局
未报告次要终点
研究者
Filippo Maria Santorelli
Director of Molecular Medicine
IRCCS Fondazione Stella Maris