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.

Check Your Eligibility
About This Trial

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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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…
Contacts

Nathalie Reynes

04 72 12 95 37

nathalie.reynes@chu-lyon.fr

CONTACT

Nathalie Guffon, MD

04 72 12 95 37

nathalie.guffon-fouilhoux@chu-lyon.fr

CONTACT