Prospective, Natural History Study of Patients With Sanfilippo Syndrome Type A (MPS IIIA)
试验速览
- 阶段
- 不适用
- 入组人数
- 25
- 主要终点
- Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores
研究概览
简要总结
To characterize the clinical course of mucopolysaccharidosis type IIIA (MPS IIIA), and identify potential endpoints for future treatment trials.
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
- •Confirmed diagnosis of MPS IIIA
- •Has the ability to comply with protocol requirements, in the opinion of the investigator
排除标准
- •Patient's assent is unattainable, or the patient's parent(s), or patient's legally authorized representative(s) is/are unable to understand the nature, scope, and possible consequences of the study, or do/does not agree to comply with the protocol defined schedule of assessments.
结局指标
主要结局
Change From Baseline in Bayley Scales of Infant Development-III/Kaufman Assessment Battery for Children-II (BSID-III/KABC-II) Age-Equivalent Scores
时间窗: Baseline, 12 months, and 24 months
The Bayley Scales of Infant and Toddler Development-Third Edition (BSID-III) is an individually administered test designed to assess the developmental functioning of infants and toddlers. The Bayley-III assesses development in five areas: cognitive, language, motor, social-emotional, and adaptive behavior. Children under the age of 3 will be tested for this. The Kaufman Assessment Battery for Children-Second Edition (KABC-II) is a clinical instrument for assessing cognitive development. Children over the age of 3 will be tested for this. Raw scores will be converted to age- equivalent scores to measure ability, skill, and knowledge, expressed as the age at which most individuals reach the same level (age norm; range: 0, unbound ). A positive value indicates improvement. The BSID-III and KABC-II age- equivalent scores will be based on the cognitive domain and average non-verbal age-equivalent score, respectively.
Change from Baseline in MPS health Assessment Questionnaire, Sanfilippo Behavior Rating Scale
时间窗: Baseline, 12 months, and 24 months
Change from baseline in the SBRS scale assessed by parent report using the Sanfilippo Behavior Rating Scale form.
Change From Baseline in Vineland Adaptive Behavior Scales-II (VABS-II) Age-equivalent Scores
时间窗: Baseline, 12 months, and 24 months
The age equivalent score represents the age in months of the typical and normal individual who would achieve the same result as the one who was tested. The age equivalent scores are assessed by Vineland Adaptive Behavior Scales, Expanded Interview Form, Second edition (VABS-II). The Vineland is designed to measure the adaptive behavior of individuals from birth to age 90. The Vineland-II contains 5 domains each with 2-3 subdomains. The main domains are Communication, Daily Living Skills, Socialization, Motor Skills, and Maladaptive Behavior. A positive value indicates improvement in health and cognition.
次要结局
- Imaging characteristics(Baseline, 12 months)
- Hearing assessments(Baseline, 12 months, and 24 months)
- Echocardiography(Baseline, 6 months, 12 months, and 24 months)
- Sleep habits(Baseline, 12 months, and 24 months)
- Ophthalmology assessments(Baseline, 12 months, and 24 months)
- Change From Baseline in Quality of Life (ITQoL/PedsQL) Questionnaire(Baseline, 12 months, and 24 months)