Observational Study, Prospective Multicentric, From the Natural History of Patients With Angelman Syndrome in Spain
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 40
- 试验地点
- 2
- 主要终点
- Clinical Global Impression Scale for AS (CGI-AS)
研究概览
简要总结
The goal of this study is to conduct a prospective, longitudinal study to observe the natural clinical progression and disease outcome of AS patients receiving no disease-modified intervention, with the purpose of obtaining data that will be useful for future clinical trials.
详细描述
The overall goal is to increase our understanding of the long-term natural history of Angelman syndrome and to identify and validate objective and sensitive outcome measures, which could serve as endpoints for outcome measures that can be used in clinical trials.
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
- 3 Months 至 99 Years（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Male or female between 3 months and 99 years of age.
- •Clinical diagnosis of Angelman Syndrome and molecular confirmation of the diagnosis.
- •The participant has an acceptable guardian capable of giving consent on behalf of the participant,
- •Willingness and ability of their guardians to comply with scheduled visits, treatment plan, laboratory tests, and other study procedures.
排除标准
- •Patients with any comorbidity that, in the clinical judgment of the principal investigator, may affect the results of the study. Any confirmed chronic or acute condition or illness affecting any system(s) that could interfere with study results and/or compliance with study procedures is included.
- •Patients who are participating in parallel studies with investigational drugs.
- •Unwillingness or inability of their guardians to follow the procedures outlined in the protocol.
结局指标
主要结局
Clinical Global Impression Scale for AS (CGI-AS)
时间窗: 2 years
Medical and neurological evaluation: -Clinical Global Impression Scale for AS (CGI-AS). The scale consists of several categories, from "not assessed" to "extremely severe." Professionals assess various aspects of behavior, communication, and the individual's overall functioning to assign a score on the CGI-AS scale. A higher score indicates a greater severity of symptoms, while a lower score indicates less severity.
Hammersmith Neonatal Neurological Examination (HINE) (for 0-2 years)
时间窗: 2 years
Medical and neurological evaluation: Hammersmith Neonatal Neurological Examination (HINE). 26 items that assess neurological function (cranial nerve function, posture, movements, tone, reflexes, and reactions). For neurological function, each item is individually scored on a scale of 0 to 3 based on descriptions and illustrative diagrams, so the total score can range from a minimum of 0 to a maximum of 78.
次要结局
- Movement through actimetry(2 years)
- Motor function scales(2 years)
- Global development: Bayley Scale-3 (BSID-3)(2 years)
- Global development: Vineland Scale-III (VABS-III)(2 years)
- Global development: Aberrant behavior scale (ABC-C)(2 years)
- Communication assessment: ORCA communication tool (specifically designed for patients with AS)(2 years)
- Communication assessment: Leiter-3, Nonverbal Intelligence Scale(2 years)
- Sleep Disorders: Children's Sleep Habits Questionnaire (CSHQ)(2 years)
- Proteomic analysis(2 years)
- Sleep Disorders: Childhood Sleep Disorders Scale (Bruni Scale)(2 years)
- Sleep Disorders: Diaries(2 years)
- Electroencephalogram (EEG) activity recordings(2 years)
研究者
BELEN RUIZ-ANTORAN
Principal Investigator
Puerta de Hierro University Hospital