A Monocentric, Prospective, Longitudinal and Observational Natural History Study for Patients With Angelman Syndrome in CHR Citadelle Liège : NatHis-Angelman
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 30
- 试验地点
- 1
- 主要终点
- Bayley-IV Expressive Communication
研究概览
简要总结
This study is a 9-year natural history study for patients with Angelman syndrome in Belgium (a genetic neurodevelopmental disorder, affecting 500,000 individuals in the world). It includes a 3-year recruitment phase, a 5 year follow-up and a year to analyze the collected data. The investigators plan to include 30 patients with a semi-annual follow-up for 4 years.
The investigators will collect relevant retrospective and prospective data using age-standardized scales and questionnaires for functional motor assessments and global developmental assessment.
详细描述
Patients are seen every six months for five years. In these visits, patient have medical review (general medical examination, neurological examination), vital signs (height, weight, respiratory rate, heart rate, blood pressure), cognitive assessment (Bayley-IV), language assessment and questionaire (Bayley-IV, ORCA), motor assessments (Bayley-IV, FMS, Developmental milestones and HINE), quality of life questionnaire (PedsQL, CGI-CASS) and general development questionnaire (Vineland-II).
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Cross Sectional
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Genetically confirmed diagnosis of AS
- •0-99 years
- •Male or Female
- •Participant's carer is willing to give IC/sign a "record of consultation" for participation in the study
排除标准
- •comorbidity that could potentially affect the results of the study coexists. This
结局指标
主要结局
Bayley-IV Expressive Communication
时间窗: 2 years
Scale of 37 items of expressive communication abilities scale in development evaluation (raw score 0 to 74).
Continuous movement monitoring using ActiMyo®
时间窗: 2 years
To improve the design of future clinical trials by validating tools of assessment based on their suitability to be used as prognostic measures.
Bayley-IV gross motor functions
时间窗: 2 years
Scale of 58 items of Gross motor (raw score 0 to 116) development evaluation.
Bayley-IV fine motor functions
时间窗: 2 years
Scale of 46 items of fine motor scale (raw score 0 to 92) development evaluation.
Bayley-IV Receptive Communication
时间窗: 2 years
Scale of 42 items of receptive communication abilities scale in development evaluation (raw score 0 to 84).
Observed Reported Communication Assessment (ORCA)
时间窗: 2 years
Caregivers interview of 23 items with subscales to assessing the general communication. This is a qualitative questionnaire.
Bayley-IV Cognitive
时间窗: 2 years
Scale of 81 items of cognitive scale development evaluation (raw score 0 to 162).
Functional Mobility Scale (FMS)
时间窗: 2 years
Scale o 3 items (5, 50 and 500 meters distance of ability to move alone) to classify children's functional mobility, document change over time in the same child and to document change seen following. This scale is scored 1 (moving alone with wheelchair) to 6 (running).
Developmental Milestones
时间窗: 2 years
Scale to Evaluate the general gross motor milestones of 6 items global motor ability, from ability to sit without support to walk alone (score by able or not able). .
Hammersmith Infant Neurological Examination (HINE - if under 2 years old)
时间窗: 2 years
Scale of 8 items to evaluation the mobility in young children, scored 0 (unable) to 4 (able and normal for children age) per items (total raw score from 0 to 32).
Vineland-II
时间窗: 2 years
11 subscales of items evaluated with Caregivers interview tool for assessing the level of autonomy and adaptation for all ages. Subscales are composed as following (higher scores with better the abilites): 1. Listening and understanding, raw score 0 to 40; 2. Speaking, raw score 0 to 108, 3. Reading and writing, raw score 0 to 54, 4. Self caring, raw score 0 to 82, 5. Home caring, raw score 0 to 48, 6. Community living, raw score 0 to 88, 7. Contact with others, raw score 0 to 76, 8. Play and use your free time, raw score 0 to 62, 9. Adapting, raw score 0 to 60, 10. Gros motor, raw score 0 to 80, 11. Fine motor, raw score 0 to 72,
次要结局
- Clinical Global Impression - Improvement - Angelman Syndrome (CGI-I-AS)(2 years)
- Pediatric Quality of Life (PedsQL)(2 years)
研究者
Laurent Servais
Prof. Investigator of CRMN Liège, Principal investigator
Centre Hospitalier Universitaire de Liege