RareWays is a research directory. It helps you understand the science. It is not medical advice. Always discuss your care options with your healthcare team.
Coverage: 2020-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Sanfilippo Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Resveratrol Improves Memory and Reduces Neuroinflammation in an MPS IIIB Mouse Model.
Ziemian Maja et al., Neurochemical research (13 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42867588/
- 2.
Inhibition of heparan sulfate synthesis by resveratrol in mucopolysaccharidosis type I and IIIB.
Rintz Estera et al., Metabolic brain disease (10 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42859275/
- 3.
Generation of induced pluripotent stem cell lines TRNDi045-A-40 and TRNDi045-A-41 modeling mucopolysaccharidosis type IIIA and type I from parental KOLF2.1J.
Ma Chris H et al., Stem cell research (9 October 2026)
https://pubmed.ncbi.nlm.nih.gov/42868744/
- 4.
From Silence to Hashtag: How Medical Mums Promote Sanfilippo Syndrome Awareness on Instagram
Antje Baumgarten, Journal of Consumer Health on the Internet (28 September 2026)
https://doi.org/10.1080/15398285.2026.2735199
- 5.
Characterization of Cellular Alterations in a Novel NAGLU Enzyme-Deficient Cellular Model Generated from U-87MG Cell Line.
Niño-Traslaviña Katherin D et al., Neurochemical research (24 September 2026)
https://pubmed.ncbi.nlm.nih.gov/42782417/
Clinical Trials : Australian Sites
Ask your doctor whether you or your child may be eligible for any of these trials. Each has its ID and full eligibility criteria at the link shown.
- 1.
Follow-up Study of AAV-Mediated Gene Transfer (UX111; Previously Known as ABO-102) for MPS Type IIIA
NCT04360265 · Enrolling by invitation · Phase 3 · Ultragenyx Pharmaceutical Inc
https://clinicaltrials.gov/study/NCT04360265
- 2.
Gene Transfer Study of ABO-102 in Patients With Middle and Advanced Phases of MPS IIIA Disease
NCT04088734 · TERMINATED · Phase 1 / Phase 2 · Ultragenyx Pharmaceutical Inc
Ages 2 to 18
https://clinicaltrials.gov/study/NCT04088734
- 3.
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
NCT02716246 · Recruiting · Phase 2 / Phase 3 · Ultragenyx Pharmaceutical Inc
https://clinicaltrials.gov/study/NCT02716246
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Sanfilippo Syndrome
Sanfilippo syndrome (MPS III) is a rare lysosomal storage disorder caused by enzyme deficiencies that result in heparan sulfate accumulation in cells. It causes progressive neurodegeneration, intellectual regression, and behaviour problems in childhood. Australian families have been pivotal in advocating for gene therapy research.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
Most Recent Research
Mucopolysaccharidosis type IIIB (Sanfilippo syndrome type B) is a neurodegenerative lysosomal storage disorder characterized by cognitive decline, behavioral abnormalities, and neuroinflammation, for which no effective central nervous system (CNS)-targeted therapy currently exists. Increasing evidence indicates that inflammatory processes contribute substantially to disease progression. In this study, we evaluated the effects of resveratrol on behavioral outcomes and neuroinflammatory markers in an MPS IIIB mouse model, including both sexes. Behavioral analyses demonstrated anxiety-like behavior and memory impairment in MPS IIIB mice. Resveratrol treatment improved cognitive performance, reduced anxiety-related behavior, and normalized exploratory activity. Premature deaths occurred only in untreated MPS IIIB mice. Hematological and biochemical analyses revealed systemic inflammation, erythropoietic stress, metabolic dysregulation, and altered liver-associated parameters. Diseased mice exhibited leukocytosis, elevated pro-inflammatory immune cell populations, increased globulin concentrations, disturbed glucose and lipid metabolism, and sex-dependent alterations in liver and renal markers. Resveratrol partially normalized these abnormalities and reduced inflammatory and hematological disorders. Peripheral and central inflammatory responses were assessed by measurement of IL-1β, IL-6, and c-Fos levels. MPS IIIB mice displayed widespread neuroinflammation in the hippocampus, cortex, and amygdala, with pronounced sex- and region-dependent differences. Females exhibited stronger inflammatory changes in CA1, CA2, and retrosplenial cortical regions, whereas males showed predominant involvement of CA3, dentate gyrus, and motor cortical areas. Resveratrol reduced pro-inflammatory cytokine production and normalized neuronal hyperactivity, particularly in males. Overall, resveratrol modulated neuroinflammatory markers and improved selected behavioral outcomes in MPS IIIB mice, suggesting its potential to ameliorate CNS-related manifestations of Sanfilippo syndrome.
Common Questions
What is Sanfilippo Syndrome?
Sanfilippo syndrome (MPS III) is a rare lysosomal storage disorder caused by enzyme deficiencies that result in heparan sulfate accumulation in cells. It causes progressive neurodegeneration, intellectual regression, and behaviour problems in childhood. Australian families have been pivotal in advocating for gene therapy research.
How many clinical trials are available for Sanfilippo Syndrome?
RareWays currently indexes 31 clinical trials for Sanfilippo Syndrome, of which 2 are actively recruiting. These counts cover indexed trials across countries, not just your country. An Australian site does not necessarily mean that site is recruiting. Check locations, eligibility and current availability with the study team.
Where does the research data for Sanfilippo Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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