Observing the progression of Sanfilippo Syndrome Type C in patients

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to document the natural history of Sanfilippo Syndrome Type C (MPS IIIC) through both retrospective and prospective data collection. Participants, including children and young adults, will undergo yearly clinic visits for comprehensive assessments, including neurocognitive and behavioral evaluations. Additionally, caregivers will use a dedicated app to record home video assessments and complete questionnaires every six months, allowing for continuous monitoring of the condition's progression. The study seeks to enhance understanding of the syndrome's impact on various aspects of health and development.

Why it matters

Who can join: the full rules

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

Where it's running

• The University of Texas Southwestern Medical Center
  Dallas, Texas, United States Recruiting
• Hospices Civils De Lyon
  Bron, France Recruiting

Study contacts

• Principal investigator: Nathalie Guffon, MD — Hospices Civils de Lyon
• Study coordinator: Nathalie Reynes
• Email: nathalie.reynes@chu-lyon.fr
• Phone: 04 72 12 95 37

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Cannabidiol (Epidiolex) for neurobehavioral symptoms in Sanfilippo syndrome

  This trial will test whether Epidiolex (a pharmaceutical cannabidiol) is safe and can help children and young people with Sanfilippo syndrome reduce neurobehavioral problems and improve daily functioning.

  Recruiting Phase 2/3 Lundquist Institute for Biomedical Innovation at Harbor-UCLA Medical Center · Torrance, California · NCT06333041

• Gene therapy for treating MPS IIIA

  This study is testing a new gene therapy called UX111 to see if it can help people with MPS IIIA, a serious genetic disorder.

  Recruiting at 2 sites Phase 2/3 Ultragenyx Pharmaceutical Inc · Columbus, Ohio and 4 other locations · NCT02716246

• Using umbilical cord blood cells to treat inherited metabolic diseases

  This study is testing if a new treatment using special cells from umbilical cord blood can help people with inherited metabolic diseases and early signs of nerve damage feel better when combined with standard cord blood transplants.

  Recruiting Phase 1 Duke University · Durham, North Carolina · NCT02254863

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.