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RecruitingNCT05825131

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

A Combination Retrospective and Prospective Natural History Study of Participants With Sanfilippo Syndrome Mucopolysaccharidosis Type IIIC (MPS IIIC)

Sponsor

Phoenix Nest

Enrollment

30 participants

Start Date

Nov 10, 2024

Study Type

OBSERVATIONAL

Conditions

Sanfilippo Syndrome Type C

Summary

This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.

Eligibility

Min Age: 12 Months

Inclusion Criteria12

  • 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 Criteria4

  • 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
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Locations(2)

The University of Texas Southwestern Medical Center

Dallas, Texas, United States

Hospices Civils De Lyon

Bron, France

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NCT05825131