Natural History to Assess Disease in Patients With MPS IIIC (NCT07712003) | Clinical Trial Compass
Not Yet RecruitingNot Applicable
Natural History to Assess Disease in Patients With MPS IIIC
United States35 participantsStarted 2026-11-01
Plain-language 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.
Who can participate
Age range
1 Year – 25 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. Deficiency in the Hgsnat enzyme activity
. Genetic analysis demonstrating homozygous or compound heterozygous, pathogenic, and/or potentially pathogenic variants in the Hgsnat gene
. 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 4. One of the legal representative(s) or the caregivers is willing to perform at home visits and assessments per instruction 5. Ability to comply with protocol requirements, in the opinion of the Investigator 6. Able to take food or liquid by mouth, able to walk with or without assistance 7. Participants must have health insurance 8. Caregiver willing and able to comply with protocol requirements, including performing at-home visits and assessments 9. Participants must have smart phone or tablet and reliable internet connection 10. Have one of these languages as their first language: English, Spanish, French, German or Portuguese
Exclusion criteria
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1This trial is described as a 'natural history' study for MPS IIIC — can you explain what that means for my child, and whether they would receive any actual treatment or just be observed and evaluated?
2Since this trial isn't recruiting yet, how long might we realistically be waiting before my child could even be considered for enrollment, and should we be pursuing other options in the meantime?
3The study plans to measure things like daily living skills, language, speech, behavior, and mobility through videos and questionnaires — what would that actually look like in terms of how often we'd need to come in, and how disruptive could those visits be to our family's routine?
4I understand that natural history studies like this one help researchers understand how MPS IIIC progresses over time — could participating in this study potentially position my child to be considered for a future treatment trial that might build on this research?
5Are there any other MPS IIIC studies or standard-of-care approaches we should be comparing this to, especially since this study doesn't appear to involve any experimental therapy?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Daily living functions captured by video
Timeframe: Baseline to up to 2 years with 6-month time points.
2
Expressive and receptive language assessed by standard questionnaires
Timeframe: Baseline to up to 2 years with 6-month time points.
3
Speech as assessed by standard questionnaires
Timeframe: Baseline to up to 2 years; with 6-month time points.
4
Behavior as assessed by ability to perform daily functions as captured by video
Timeframe: Baseline to up to 2 years with 6-month time points.
5
Mobility as assessed by video and standard questionnaires
Timeframe: Baseline up to 2 years with 6-month time points.
. Have received prior gene therapy or ERT for the treatment of MPS IIIC ever or any other investigational drug for any reason within 30 days prior to the Screening visit (Visit 1)
. Have concomitant illness or medical condition that, in the opinion of the Investigator, might compromise the participant's ability to comply with protocol requirements or the participant's wellbeing or safety, or the interpretability of the participant's clinical data