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Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
RecruitingObservational study
A Combination Retrospective and Prospective Natural History Study of Participants With Sanfilippo Syndrome Mucopolysaccharidosis Type IIIC (MPS IIIC)
Who can join
12 Months · All sexes
Full eligibility criteria
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 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
About the study
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
Sponsor: Phoenix Nest · Participants: 30 · Started: Nov 10, 2024
Contact the study team
- Nathalie Reynes · Phone: 04 72 12 95 37
- Nathalie Guffon, MD · Phone: 04 72 12 95 37
Official record on ClinicalTrials.gov — NCT05825131
Locations in the U.S.
| Texas | The University of Texas Southwestern Medical Center, Dallas |
From ClinicalTrials.gov, data retrieved Sep 30, 2026. Each study sets its own eligibility; the study team decides who can join.