A Combination Retrospective and Prospective Natural History Study of Participants With Sanfilippo Syndrome Mucopolysaccharidosis Type IIIC (MPS IIIC)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 30
- 试验地点
- 4
- 主要终点
- Change From Baseline in Vineland Adaptive Behavior Scales Second Edition (VABS-II) Development Quotient (DQ) Score
研究概览
简要总结
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
详细描述
This is a multi-center, natural history study of subjects with Sanfilippo syndrome type C or MPS IIIC. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis. Real-world data will be collected at home using a recording device.
Participants will be asked to attend clinic visits in person on a yearly basis. In clinic visits will include neurocognitive, developmental, behavioral, biochemical, imaging measures as well as retrospective medical record analysis.
At 6-month intervals between clinic visits, participants will be contacted remotely for some safety assessments (e.g., collecting information about concomitant medications, concurrent illnesses, and procedure-related adverse events [AEs] and serious AEs [SAEs] since last clinic visit).
At 6-month intervals, caregivers will complete questionnaires and record home video assessments using a dedicated, compliant study application (app) called C-RARE (Recording Application for Real-World Evidence). The C-RARE app consists of 9 tasks of Activities of Daily Living and socialization as well as three parent reported Sanfilippo specific questionnaires.
The objectives of this study are:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 12 Months 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Confirmed diagnosis of Sanfilippo syndrome type C disease by all of the following:
- •Deficiency in heparan-alpha-glucosaminide N-acetyltransferase enzyme activity
- •Has presented with signs/symptoms consistent with Sanfilippo syndrome type C, or, for individuals who have not presented with signs/symptoms of disease (eg, siblings of known patients), the determination of eligibility will be at the discretion of the Sponsor in conjunction with the site Investigator
- •Genomic DNA analysis demonstrating homozygous or compound heterozygous, pathogenic and/or potentially pathogenic variants in the HGSNAT gene
- •Accumulated GAG HS in urine
- •Written informed consent from parent or legal guardian and assent from patient, if required
- •Parent/legal guardian willing to accompany the patient to all study visits
- •Ability to comply with protocol requirements, in the opinion of the Investigator
- •Negative urine pregnancy test at screening (nonsterile females of childbearing potential only).
- •Functional abilities:
- •Able to take food or liquid by mouth, able to walk with or without assistance.
- •Has an age equivalent on the Vineland Adaptive Behavior Scales (VABS) of ≥1 year.
排除标准
- •Patients who meet any of the following criteria will not be eligible to participate in the study:
- •Have received an investigational drug within 30 days prior to the Baseline Visit
- •Concomitant illness or medical condition or extenuating circumstance that, in the opinion of the Investigator, might compromise the patient's ability to comply with protocol requirements, the patient's well-being or safety, or the interpretability of the patient's clinical data
- •The presence of significant non-MPS IIIC-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study
结局指标
主要结局
Change From Baseline in Vineland Adaptive Behavior Scales Second Edition (VABS-II) Development Quotient (DQ) Score
时间窗: Baseline, 12 months and 24 months
The VABS-II test measures adaptive behaviors, including the ability to cope with environmental changes, to learn new everyday skills, and to demonstrate independence. The DQ is a means to express a neurodevelopmental/cognitive delay. The DQ was computed as a ratio and expressed as a percentage using the age-equivalent score divided by the age at testing (\[age-equivalent score/chronological age\] × 100; range, 0, 100). The overall DQ score is calculated from the mean age-equivalent score obtained by averaging out the age-equivalent scores for the all the sub-domains except for Gross and Fine motor skills. This test measures the following 5 key domains: communication, daily living skills, socialization, motor skills, and the adaptive behavior composite (a composite of the other 4 domains). A positive value indicates improvement in health and cognition.
Change From Baseline in Development Quotient (DQ) Using Bayley Scales of Infant Development Assessment Fourth Edition
时间窗: Baseline, 12 months and 24 months
The Bayley Scales of Infant and Toddler Development, 4th edition (Bayley-4) is a standardized developmental assessment that provides raw scores for 5 subtests (cognitive, expressive communication, receptive communication, fine motor, gross motor) and standard score norms converted to percentiles for 3 scales (cognition, communication, motor). The Bayley-4 raw scores range from 0-162 for the cognitive subtest, 0-84 for the receptive communication subtest, 0-74 for the expressive communication subtest, 0-92 for the fine motor subtest, and 0-116 for the gross motor subtest; a higher score denotes a better outcome. The Bayley-4 standard score norms are converted to percentiles from \<0.1 to \>99.9 for the cognitive, language, and motor scales; a higher percentile denotes a better outcome.
次要结局
- Change From Baseline of Regional Brain Volumes(Baseline, 12 months and 24 months)
- Change From Baseline on the Functional Abilities Descriptive Analysis of Type C- Recording Application for Real-world Evidence (C-RARE)(Baseline, 6 months, 12 months, 18 months, 24 months)
- Change From Baseline on the Peabody Picture Vocabulary Test, Fifth Edition(Baseline, 12 months, 24 months)
- Change From Baseline on the Expressive Vocabulary Test Third Edition(Baseline, 12 months, 24 months)
- Change From Baseline on the Color Trail Test Time Score(Baseline, 12 months and 24 months)
- Change From Baseline on the Assessment of Behavioral Changes in Sanfilippo (ABCS)(Baseline, 6 months, 12 months, 18 months, 24 months)
- Change From Baseline in Speech Through Picture Description(Baseline, 12 months, 24 months)