Mucopolysaccharidosis Type II — Research Summary
Printed from RareWays (rareways.com.au) on 5 April 2026
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
Age-dependent reference intervals for cerebrospinal fluid and urine biomarkers of mucopolysaccharidoses.
Herber Candice B et al. — Molecular genetics and metabolism (1 April 2026)
https://pubmed.ncbi.nlm.nih.gov/41740537/
- 2.
Recent and anticipated novel drug approvals (4Q 2025 through 3Q 2026).
Karas Brittany L et al. — American journal of health-system pharmacy : AJHP : official journal of the American Society of Health-System Pharmacists (9 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41473968/
- 3.
Bow Hunter Syndrome - A Harbinger of Basilar Stroke.
Hosur Bharat et al. — Neurology India (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41817080/
- 4.
Intrathecal idursulfase-IT in children younger than 3 years with neuronopathic mucopolysaccharidosis II in a single-arm, open-label, phase 2/3 substudy and extension.
Muenzer Joseph et al. — JIMD reports (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41737901/
- 5.
Safety profile of idursulfase administered at home in patients with mucopolysaccharidosis II enrolled in the Hunter Outcome Survey.
Burton Barbara K et al. — Molecular genetics and metabolism (1 March 2026)
https://pubmed.ncbi.nlm.nih.gov/41547052/
Clinical Trials — Currently Recruiting (Australia)
Ask your doctor whether you or your child may be eligible for any of these trials.
- 1.
Study of DISC-0974 (RALLY-MF) in Participants With Myelofibrosis or Myelodysplastic Syndrome and Anemia
Recruiting — Phase 1 — Disc Medicine, Inc
https://clinicaltrials.gov/study/NCT05320198
- 2.
A Study to Compare Blinatumomab Alone to Blinatumomab With Nivolumab in Patients Diagnosed With First Relapse B-Cell Acute Lymphoblastic Leukemia (B-ALL)
Recruiting — Phase 2 — National Cancer Institute (NCI)
https://clinicaltrials.gov/study/NCT04546399
- 3.
Precision Medicine for Every Child With Cancer
Recruiting — Australian & New Zealand Children's Haematology/Oncology Group
https://clinicaltrials.gov/study/NCT05504772
- 4.
Implementing Surgery School Prehabilitation Using Telehealth
Recruiting — Na — University of Melbourne
https://clinicaltrials.gov/study/NCT06631872
- 5.
Cancer Predisposition Testing by Family-based Whole-genome Sequencing (WGS) in Every Child With Newly Diagnosed Cancer
Recruiting — Sydney Children's Hospitals Network
https://clinicaltrials.gov/study/NCT04903782
- 6.
A Study of Low-dose Intracoronary Thrombolytic Therapy in STEMI (Heart Attack) Patients.
Recruiting — Phase 3 — University of Sydney
https://clinicaltrials.gov/study/NCT03998319
- 7.
Trial of Venovenous ECMO to De-Sedate, Extubate and Mobilise in Hypoxic Respiratory Failure
Recruiting — Na — Australian and New Zealand Intensive Care Research Centre
https://clinicaltrials.gov/study/NCT05562505
- 8.
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH
Recruiting — Phase 2 — Ultragenyx Pharmaceutical Inc
https://clinicaltrials.gov/study/NCT02716246
- 9.
ARTEMIS - A Research Study to Look at How Ziltivekimab Works Compared to Placebo in People With a Heart Attack
Recruiting — Phase 3 — Novo Nordisk A/S
https://clinicaltrials.gov/study/NCT06118281
- 10.
Efficacy and Safety of a New Formulation of Oral Cladribine Compared With Placebo in Participants With Generalized Myasthenia Gravis (MyClad)
Recruiting — Phase 3 — Merck Healthcare KGaA, Darmstadt, Germany, an affiliate of Merck KGaA, Darmstadt, Germany
https://clinicaltrials.gov/study/NCT06463587
- 11.
A Study to Determine the Efficacy and Safety of Tividenofusp Alfa (DNL310) vs Idursulfase in Pediatric and Young Adult Participants With Neuronopathic (nMPS II) or Non-Neuronopathic Mucopolysaccharidosis Type II (nnMPS II)
Recruiting — Phase 2 — Denali Therapeutics Inc.
https://clinicaltrials.gov/study/NCT05371613
- 12.
A Study of Combination Chemotherapy for Patients With Newly Diagnosed DAWT and Relapsed FHWT
Recruiting — Phase 2 — Children's Oncology Group
https://clinicaltrials.gov/study/NCT04322318
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.
Mucopolysaccharidosis Type II
Mucopolysaccharidosis type II (Hunter syndrome) is an X-linked lysosomal storage disorder caused by IDS enzyme deficiency. It predominantly affects males and causes progressive multi-organ involvement including cognitive decline, joint stiffness, and cardiac disease. Enzyme replacement therapy is established, and gene therapy trials are ongoing.
Most Recent Research
Mucopolysaccharidoses (MPSs) are characterized by deficient activity of lysosomal hydrolase enzymes, leading to progressive accumulation of glycosaminoglycans. These glycosaminoglycans can be assayed in biofluids as potential markers of disease severity and response to disease-modifying therapies. This study sought to calculate control reference intervals in a largely pediatric population for key MPS biomarkers: heparan sulfate (HS) and dermatan sulfate (DS) in cerebrospinal fluid (CSF) and urine, and CSF monosialic gangliosides GM2 and GM3. We also explored the effect of age on biomarker levels. Biomarker levels were measured using liquid chromatography-tandem mass spectrometry in CSF and urine samples from pediatric and young adult donors and were compared with baseline CSF and urine biomarker levels from an ongoing Phase 1/2 study of children with MPS II. Age-specific reference intervals were estimated for CSF HS, DS, and GM2, and for urine HS, DS, and the sum of HS and DS, after observing that levels of these markers decreased with age. CSF GM3 levels were not found to be age dependent, therefore a single reference interval was estimated for the reference population. In patients with MPS II, levels of HS and DS, respectively, were 6- and 7-fold higher in CSF, and 13- and 30-fold higher in urine than the upper reference interval limits. Establishing age-specific reference intervals will help to optimize biomarker use in clinical studies.
This information is for general awareness only.
For guidance specific to your situation, please speak with your healthcare team.