Observational Study to Assess Disease Symptoms and Progression in Participants With Sanfilippo Syndrome Type C (Mucopolysaccharidosis Type III [MPS III] C)
Phoenix Nest
Summary
This is a REMOTE prospective observational study of participants with MPS IIIC. No investigational medicinal product will be administered as part of this study. Patients functional abilities will be captured using video recordings taken by patients legal representative or caregiver using a dedicated clinical video application downloaded from the internet onto a smartphone. The video application is called C-RARE. Electronic observer-reported outcome (ObsRO) questionnaires will be completed by the legal representatives or caregivers via C-RARE. The study will last two years with videos and questionnaires taken every 6 months for a total of 5 time points. Data will then be reviewed and measured for functional change using a scoring scale designed for the use of this study.
Description
The study will be conducted remotely; no in-person visits are required. Approximately 35 participants with MPS IIIC will be enrolled in the study through a study site in the United States of America (USA). Enrollment of the first 25 participants with age ≤10 years will help ensure that the data collected from these younger participants will provide a better understanding of the early phase of the disease that may be relevant for future drug development. The remaining 10 participants will be between 11 to 25 years of age. The cutoff for the study is 25 years old. Participants speaking either Sp…
Eligibility
- Age range
- 1–25 years
- Sex
- All
- Healthy volunteers
- No
Inclusion Criteria: * 1\. ≥1 year and ≤ 25 years of age 2. Confirmed diagnosis of MPS IIIC by all of the following: 1. Deficiency in the Hgsnat enzyme activity 2. Genetic analysis demonstrating homozygous or compound heterozygous, pathogenic, and/or potentially pathogenic variants in the Hgsnat gene 3. Signs/symptoms consistent with MPS IIIC, or individuals who have not presented with signs/symptoms of disease but meet inclusion criteria 2a and 2b 3. Electronic informed consent from legal representative(s) or caregivers and when possible, pediatric or adult assent from the participant…
Location
- UT Southwestern Children's Medical CenterDallas, Texas