A Combination Retrospective and Prospective Natural History Study of Participants With Sanfilippo Syndrome Mucopolysaccharidosis Type IIIC (MPS IIIC)
Phoenix Nest
Summary
This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with MPS IIIC.
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 w…
Eligibility
- Age range
- 1+ years
- Sex
- All
- Healthy volunteers
- No
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 pathoge…
Locations (2)
- The University of Texas Southwestern Medical CenterDallas, Texas
- Hospices Civils De LyonBron