Page last updated: April 24, 2023
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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 ClinicalTrials.gov.