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NCT05825131Recruiting

Natural History Study of Participants With Sanfilippo Syndrome Type IIIC

Phoenix Nest

Start Date

11/10/2024

Completion Date

12/1/2028

Summary

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

Detailed Description

This is a multi-center, natural history study of subjects with Sanfilippo syndrome type C or MPS IIIC. This study will combine a retrospective review of medical records and an ongoing collection of clinical data on an observational basis. Real-world data will be collected at home using a recording device. 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 three parent reported Sanfilippo specific questionnaires. The objectives of this study are: * To enhance the understanding of the natural history and progression of MPS IIIC syndrome on behavior, cognitive abilities, mobility, vision, hearing, speech, and expressive and receptive language * To define and categorize clinical endpoints that may be used in future clinical trials

Eligibility Criteria

Age Range: No minimum to No maximum

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

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Conditions

Sanfilippo Syndrome Type C

Locations

The University of Texas Southwestern Medical Center

Dallas, Texas 75390

United States

Hospices Civils De Lyon

Bron, 690007539

France