A Natural History Study of Sanfilippo Syndrome Type D (NCT05648851) | Clinical Trial Compass
CompletedNot Applicable
A Natural History Study of Sanfilippo Syndrome Type D
United States10 participantsStarted 2023-01-22
Plain-language summary
Sanfilippo syndrome type D is a ultra rare syndrome with limited available natural history data. This study is planned to document, through retrospective and prospective data collection, syndrome progression in children and young adults with Sanfilippo syndrome type D. The results from this study may inform future clinical studies in targeted therapies for patients with Sanfilippo syndrome type D and may serve as an external control since there are very few patients with Sanfilippo syndrome type D.
Who can participate
Age range
12 Months
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
. Confirmed diagnosis of Sanfilippo syndrome type D disease by all of the following:
. Deficiency in alpha-GNS enzyme activity
. Has presented with signs/symptoms consistent with Sanfilippo syndrome type D, 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 GNS gene
. Accumulated GAG HS in urine
. Written informed consent from parent or legal guardian and assent from patient, if required
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 in Cognitive function
Timeframe: Baseline, 12 months and 24 months
2
Change From Baseline in Motor function
Timeframe: up to 24 months
3
Change From Baseline in Speech and language abilities
. Parent/legal guardian willing to accompany the patient to all study visits
. Ability to comply with protocol requirements, in the opinion of the Investigator
Exclusion criteria
. 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 IIID-related CNS impairment or behavioral disturbances that would confound the scientific rigor or interpretation of results of the study -