Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
Recruiting now
Conditions studied: Sanfilippo Syndrome Type C
In brief
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
Key facts
- Study ID
- NCT05825131
- Run by
- Phoenix Nest
- People needed
- 30
- Starts
- 2024-11-10
- Expected to finish
- 2028-12-01
- Last updated by the study team
- 2026-05-12
Who can join
Age: 1 and older. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- 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.
You may not qualify if…
- 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
Where it is running
- The University of Texas Southwestern Medical Center — Dallas, Texas, United States (enrolling)
- Hospices Civils De Lyon — Bron, France (enrolling)
Full record on ClinicalTrials.gov
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