A lysosomal disease characterized by progressive neurocognitive decline, severe intellectual deterioration, loss of functional abilities, and premature death.
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation for mucopolysaccharidosis type 3 is limited due to its extreme rarity, affecting fewer than 10 individuals per million. This low prevalence restricts the scope of systematic clinical studies and comprehensive phenotypic characterization. Additionally, the genetic basis was only recently identified, and ongoing research is needed to fully understand the condition's clinical features and progression.
To navigate your care effectively, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. The Cure Sanfilippo Foundation offers resources and support for families affected by this condition, which can be found at https://curesanfilippofoundation.org. Additionally, inquire about participation in any available patient registries or natural history studies to contribute to ongoing research and gain access to potential future therapies.
Currently, there are 14 active clinical trials exploring various aspects of mucopolysaccharidosis type 3. These trials aim to investigate potential therapies and improve understanding of the disease. You can find more information about these trials at ClinicalTrials.gov by searching for 'mucopolysaccharidosis type 3'. Although no orphan drugs have been designated for this condition, the active research provides hope for future treatment options.
Actionable guidance for navigating care for mucopolysaccharidosis type 3
To navigate your care effectively, consider seeking a specialist in metabolic disorders or a geneticist with experience in lysosomal storage diseases. The Cure Sanfilippo Foundation offers resources and support for families affected by this condition, which can be found at https://curesanfilippofoundation.org. Additionally, inquire about participation in any available patient registries or natural history studies to contribute to ongoing research and gain access to potential future therapies.
Consider asking your healthcare providers these condition-specific questions
Connect with organizations supporting the mucopolysaccharidosis type 3 community
Helpful links for rare disease information and support
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Feb 8, 2026
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.