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Mucopolysaccharidosis type 2 (MPS2), severe form (MPS2S), is associated with a massive accumulation of glycosaminoglycans and a wide variety of symptoms including a rapidly progressive cognitive decline; it is most often fatal in the second or third decade.
Biomarker and diagnostic research for mucopolysaccharidosis type 2, severe form has been reported in the published literature.
Estimated prevalence: Unknown (Unknown prevalence).
No clinical trials have been registered for mucopolysaccharidosis type 2, severe form.
136 publications have been identified in PubMed for mucopolysaccharidosis type 2, severe form. Research spans Case Report / Case Series (20%), Basic Science / Preclinical (18%), and Diagnostic / Biomarker (15%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 27 | 20% |
Data assembled from 3 of 12 sources · Last updated Sep 18, 2026, 2:35 PM UTC
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
Laboratory research
25 |
18% |
Testing and diagnosis research | 21 | 15% |
Disease patterns and progression | 21 | 15% |
Research summaries | 15 | 11% |
New treatment approaches | 14 | 10% |
Clinical study results | 9 | 7% |
Other research | 4 | 3% |
Rius R (2026). [PMID: 41951959](https://pubmed.ncbi.nlm.nih.gov/41951959/). *Nat Genet*. [Basic Science / Preclinical]
Seguier-Lipszyc E (2026). [PMID: 42148612](https://pubmed.ncbi.nlm.nih.gov/42148612/). *Isr Med Assoc J*. [Case Report / Case Series]
Phillips D (2026). [PMID: 41566383](https://pubmed.ncbi.nlm.nih.gov/41566383/). *Orphanet J Rare Dis*. [Clinical Trial Publication]
Bezci Aygün F (2026). [PMID: 42013730](https://pubmed.ncbi.nlm.nih.gov/42013730/). *J Fr Ophtalmol*. [Other]
Tucci F (2026). [PMID: 41017152](https://pubmed.ncbi.nlm.nih.gov/41017152/). *Molecular therapy : the journal of the American Society of Gene Therapy*. [Clinical Trial Publication]
Yu H (2026). [PMID: 41584852](https://pubmed.ncbi.nlm.nih.gov/41584852/). *Genes Dis*. [Gene Therapy / Novel Therapeutics]
Rasmussen CA (2026). [PMID: 41968348](https://pubmed.ncbi.nlm.nih.gov/41968348/). *Am J Med Genet A*. [Case Report / Case Series]
Wiertel-Krawczuk A (2026). [PMID: 41745717](https://pubmed.ncbi.nlm.nih.gov/41745717/). *Neurol Int*. [Case Report / Case Series]
Baspinar N (2026). [PMID: 40739956](https://pubmed.ncbi.nlm.nih.gov/40739956/). *J Child Neurol*. [Diagnostic / Biomarker]
Gulkas S (2026). [PMID: 41410633](https://pubmed.ncbi.nlm.nih.gov/41410633/). *Ophthalmology*. [Case Report / Case Series]
AI-curated news mentioning mucopolysaccharidosis type 2, severe form
Updated Feb 13, 2026
FDA issues a complete response letter for REGENXBIO's gene therapy RGX-121 intended for mucopolysaccharidosis type 2 (MPS II), also known as Hunter syndrome. The agency raised concerns regarding clinical trial eligibility criteria and differentiation between disease types.
The FDA issued a complete response letter to REGENXBIO for its gene therapy RGX-121, intended for mucopolysaccharidosis type 2 (MPS II), also known as Hunter syndrome. The agency raised concerns regarding clinical trial eligibility criteria and its ability to differentiate between disease types.
Regenxbio's RGX-202 gene therapy for Duchenne muscular dystrophy (DMD) demonstrated significant improvements in patient outcomes, exceeding expected disease progression at 12 and 18 months post-treatment in a pivotal trial. The company plans to submit a Biologics License Application (BLA) in mid-2026 via an accelerated approval pathway.