Natural History Study for Sanfilippo Syndrome Type C
Natural History Study of Participants With Sanfilippo Syndrome Type IIIC
Recruiting
Observational Study
Sanfilippo Syndrome Type C
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
Ready to participate?
Review the details below, then apply to join this clinical trial.
At a Glance
Age
12 Months and older
Sex
Any
Study type
Observational
Participants needed
30 (estimated)
Sponsor
Phoenix Nest · Industry
Who this trial is looking for
This trial is looking for children and young adults diagnosed with Sanfilippo syndrome type C. Participants will provide data about their condition over time to help understand the disease's progression.
Are You a Good Fit for This Trial?
You may be able to join if
I have been diagnosed with Sanfilippo syndrome type C
I have a specific enzyme activity deficiency
I have shown symptoms of Sanfilippo syndrome type C
I have genetic testing results showing certain changes in the HGSNAT gene
I have specific substances in my urine
I can give consent from my parent or guardian
I can go to all study visits with my parent or guardian
I am able to eat and walk, with or without help
You may not be able to join if
I have taken an investigational drug in the last 30 days
I have a medical condition that might affect my safety or results
I have significant unrelated brain or behavioral issues
Summarized in plain language from this trial's official eligibility criteria.
The full criteria are further down this page — only the research team can
confirm whether you qualify.
Think this trial could be right for you?
Answer a few quick questions to see if you may meet the eligibility requirements.
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
Trial Locations
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Status
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 pr…
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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