Natural History Study of Participants With Sanfilippo Syndrome Type IIIC | MPS IIIC | Observational Study | Hospices Civils De Lyon

April 25, 2023

Page last updated: April 24, 2023

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Trial Information

Hospices Civils De Lyon in France is conducting a single-site natural history study of patients with Sanfilippo Syndrome Type C (MPS IIIC or MPS 3C). This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis from participants with Sanfilippo syndrome type C.

Number of participants: 15 children with MPS IIIC, ages 12 month old and older

Duration: 24 months.

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 two parent reported questionnaires.

Location: Hospices Civils De Lyon, Bron, France

Qualifications to Participate:

Inclusion Criteria | To be eligible to participate in the study, patients must meet all of the following criteria:

  • 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.

Exclusion Criteria | 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

Learn more: For more information about this study and/or to sign up, read about it on

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