A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (M… (NCT05523206) | Clinical Trial Compass
CompletedNot Applicable
A Natural History Study of Biomarkers and Clinical Outcomes in Mucopolysaccharidosis Type IIIA (MPS IIIA; Sanfilippo Syndrome)
United States15 participantsStarted 2022-09-27
Plain-language summary
This protocol is a decentralized, single cohort, natural history and biomarker study enrolling up to 20 participants with MPS IIIA (Sanfilippo syndrome). At least 10 participants (\~50%) must be less than four years old at the time of the Parent/LAR consent. The study will have a screening process and 7 study visits, e.g. home visits, that will consist of serum collection and completion of a remote assessment of the Vineland Adaptive Behavior Scales 3rd Edition (Vineland-3)
MPS IIIA remains a devastating disease with a high unmet medical need. There is currently a limited number of available data to adequately characterize the progression of the disease. Analysis of blood biospecimens and adaptive behavior in this study will help researchers better understand the clinical progression of MPS IIIA. A better understanding of disease progression may assist in developing novel therapies for rare genetic disorders.
Who can participate
Age range
4 Months – 13 Years
Sex
ALL
See this in plain English?
AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.
Inclusion criteria
. All participants must be between 4 months and \< 14 years at time of consent
. At least 10 participants (ie, approx. 50% of expected total population) must be between 4 months old and \< 4 years old at the time of consent
. Documented reduced N-sulphoglucosamine sulphohydrolase (SGSH) activity in plasma, white blood cells, and/or skin fibroblasts consistent with MPS IIIA (10% or less of the lower limit of the normal range based on the testing laboratory)
. Documented likely pathogenic variant of the SGSH gene
. Documented elevated heparan sulfate levels in urine and/or blood Participants and their families are willing to complete 7 blood draws and 7 Vineland-3 collections
Questions worth asking your doctor
Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.
1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?
Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.
Questions for the trial coordinator
The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.
1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?
A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.
What they're measuring
1
Change from baseline of adaptive behavior as measured by remote administration of the Vineland-3 Adaptive Behavior Scales (Vineland-3)
Timeframe: 96 weeks
2
Change from baseline in levels of blood-based biomarkers in serum