A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in the United Kingdom: Natural History - Foundation for Angelman Syndrome Therapeutics (FAST) United Kingdom (UK)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 40
- 试验地点
- 1
- 主要终点
- Neurological assessment scale
研究概览
简要总结
The goal of this study is to conduct a prospective, longitudinal assessment of the natural clinical progression of Angelman syndrome (AS) in children and adults. This will be performed by acquiring baseline measurements, and developing effective outcome measures and diagnostic tools for the syndrome, to prepare the healthcare system for forthcoming clinical trials.
详细描述
This study is being conducted in anticipation of several candidate therapies which are approaching clinical readiness for Angelman syndrome. This study will comprehensively evaluate the natural clinical progression of the disease using scales and questionnaires for the assessment of motor function and global development, motor measuring devices (ActiMyo), and by collecting sleep and seizure diaries. In addition, proteomic analysis and electroencephalography (EEG) recordings will be collected to identify biomarkers which will indicate improvements in disease outcome following treatment.
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
- •For the candidate participants affected by AS:
- •Genetically confirmed diagnosis of AS
- •0-99 years
- •Male or Female
- •Obtained consent forms and/or record of consultation by the carers.
- •In this study, the two primary carers for each participant diagnosed with AS will be also considered participants. Carers will have to meet the following inclusion criteria:
- •Male or Female
- •>18 years
- •Legal carer of the patient diagnosed with AS
- •Willingness to follow study procedures, as assessed by the research team
- •Willingness to sign the consent form
- •Ability to understand all the information regarding the study, as assessed by the research team
排除标准
- •The participant affected by AS may not enter the study if there is any comorbidity (*) that could potentially affect the results of the study. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI). Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of AS.
- •(*) This includes any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures.
结局指标
主要结局
Neurological assessment scale
时间窗: 2 years 1 month
Hammersmith Infant Neurological Examination (HINE) (0-2 years ONLY). Maximum global score of 78. Higher scores indicate a higher degree of neurological performance.
Collection of relevant medical data (retrospective and prospective)
时间窗: 2 years 1 month
Collection of demographic data, Angelman Syndrome-related medical history, past medical and surgical history, current medication, history of immunisations and family medical history.
Clinical Scale
时间窗: 2 years 1 month
Caregiver-reported Angelman Syndrome Scale (CASS). Scales whereby the carer rates from 1 to 7 the overall improvement/deterioration of the participant affected to by Angelman Syndrome. One is improved and 7 denotes deterioration.
次要结局
- Health economics(2 years and 1 month)
- Motor function assessment(2 years 1 month)
- Sleep and seizure activity(2 years 1 month)
- Movement monitoring using wearable device(2 years 1 month)
- Quality of Life questionnaires for families of Angelman syndrome patients(2 years 1 month)
- Quality of life assessment for individuals affected by Angelman syndrome(2 years 1 month)
- Global development assessment scale(2 years 1 month)
- Electroencephalogram (EEG) activity recordings(24 hours)
- Gross motor milestones(2 years 1 month)
- Aberrant behaviour assessment(2 years 1 month)
- Communication assessment(2 years 1 month)
- Laboratory biomarkers for Angelman syndrome(2 years 1 month)
- Clinical trial readiness(2 years and 1 month)