Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

Conditions

• Sanfilippo Syndrome Type C

Eligibility Criteria

Sex

ALL

Age

12 Months - N/A

Healthy Volunteers

Not accepted

Study Details

This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.

Key Dates

Start date

Nov 10, 2024

Status verified

May 2026

Primary completion

Jul 30, 2028

Completion

Dec 1, 2028

Study Design

Enrollment

30 participants (estimated)

Arms

• Arm: Retrospective and prospective observational study of patients living with MPS IIIC
  Cohort 1: These participants will be a part of the retrospective and prospective Natural History Study, including the C-RARE video assessments. In clinic visits will include: neurocognitive, developmental and behavioral clinical outcome assessments as well as biochemical sample analysis, imaging measures and retrospective medical record review. Participants will record daily living activities through the C-RARE app on their mobile device.
• Arm: Remote video recording study and retrospective medical chart review of patients living with MPS IIIC
  Cohort 2: These participants will not attend in clinic visits. They will be a part of the C-RARE and retrospective medical chart review analysis. 35 patients with a confirmed diagnosis of MPS IIIC from English, Spanish and Portuguese speaking households will be recruited for this portion of the study.
• Arm: Retrospective medical chart review of MPS IIIC patients either living or deceased
  Cohort 3: Deceased or living medical record analysis only of patients with MPS IIIC. Living patients will not be participating in cohort 1 clinical study or cohort 2 C-RARE study.

Primary Outcome Measure

Change From Baseline in Development Quotient (DQ) Using Bayley Scales of Infant Development Assessment Fourth Edition [ Time Frame: Baseline, 12 months and 24 months ]

Central Contacts

• Nathalie Reynes
  04 72 12 95 37
  [email protected]
• Nathalie Guffon, MD
  04 72 12 95 37
  [email protected]

Locations (1)

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