NCT05825131 Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
| NCT ID | NCT05825131 |
| Status | Recruiting |
| Phase | — |
| Sponsor | Phoenix Nest |
| Condition | Sanfilippo Syndrome Type C |
| Study Type | OBSERVATIONAL |
| Enrollment | 30 participants |
| Start Date | 2024-11-10 |
| Primary Completion | 2028-07-30 |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 30 participants in total. It began in 2024-11-10 with a primary completion date of 2028-07-30.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
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
Contact & Investigator
Nathalie Guffon, MD
PRINCIPAL INVESTIGATOR
Hospices Civils de Lyon
Frequently Asked Questions
Who can join the NCT05825131 clinical trial?
This trial is open to participants of all sexes, aged 12 Months or older, studying Sanfilippo Syndrome Type C. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT05825131 currently recruiting?
Yes, NCT05825131 is actively recruiting participants. Contact the research team at nathalie.reynes@chu-lyon.fr for enrollment information.
Where is the NCT05825131 trial being conducted?
This trial is being conducted at Dallas, United States, Bron, France.
Who is sponsoring the NCT05825131 clinical trial?
NCT05825131 is sponsored by Phoenix Nest. The principal investigator is Nathalie Guffon, MD at Hospices Civils de Lyon. The trial plans to enroll 30 participants.