Natural History Study of Participants With Sanfilippo Syndrome Type IIIC (NCT05825131) | Clinical Trial Compass
RecruitingNot Applicable
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
United States, France30 participantsStarted 2024-11-10
Plain-language summary
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
Who can participate
Age range12 Months
SexALL
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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion 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 o…
What they're measuring
1
Change From Baseline in Development Quotient (DQ) Using Bayley Scales of Infant Development Assessment Fourth Edition
Timeframe: Baseline, 12 months and 24 months
2
Change From Baseline in Vineland Adaptive Behavior Scales Second Edition (VABS-II) Development Quotient (DQ) Score