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Clinical Trials in the USA / NCT07712003
Starting soon Observational

Natural History to Assess Disease in Patients With MPS IIIC

NCT07712003 · tracked via the Priya Life Science USA tracker
Sponsor
Phoenix Nest
Phase
Observational
Started
2026-11-01
Last updated
2026-07-17

Condition(s) studied

Sanfilippo Syndrome Type CMucopolysaccharidosis (MPS) IIIC

Study 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.

Eligibility

Sex
ALL
Min age
1 Year
Max age
25 Years
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 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: 1. 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) 2. 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

Primary outcome measure(s)

  • Daily living functions captured by video — Baseline to up to 2 years with 6-month time points.
    Ability to perform activities of daily living.
  • Expressive and receptive language assessed by standard questionnaires — Baseline to up to 2 years with 6-month time points.
    Ability to understand, comprehend and respond to communication.
  • Speech as assessed by standard questionnaires — Baseline to up to 2 years; with 6-month time points.
    Analysis of speech quality.
  • Behavior as assessed by ability to perform daily functions as captured by video — Baseline to up to 2 years with 6-month time points.
    Quality of behavior as defined by ability to perform defined functions
  • Mobility as assessed by video and standard questionnaires — Baseline up to 2 years with 6-month time points.
    Assessment of fine and gross motor abilities

Trial sites (1)

FacilityCityRegionStatus
UT Southwestern Children's Medical Center Dallas Texas

More Phoenix Nest trials in the USA

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC Recruiting

Other trials for the same condition

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC Recruiting
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT07712003 on ClinicalTrials.gov ↗ ← All trials in the USA