Publications and Scientific Resources
This page brings together key scientific publications, clinical guidelines and review articles on Hurler syndrome (severe MPS I, MPS I-H). It is designed as a starting point for clinicians, researchers and informed families who want to explore the evidence behind diagnosis, treatment and emerging therapies.
You will find peer-reviewed papers on natural history, HSCT and ERT outcomes, neurocognition, skeletal disease, quality of life and gene- and cell-based investigational approaches, including work from our own preclinical and translational programmes.
Educational purposes: This page is for educational purposes and does not provide medical advice. Individual decisions should always be based on national guidelines and discussion with the treating specialist team.
Landmark Papers and Core References
Essential publications that underpin current understanding of Hurler syndrome
Natural History Registry Study
Multi-center longitudinal study documenting disease progression in untreated Hurler syndrome, providing baseline natural history data essential for understanding treatment impact.
Newborn Screening Impact Analysis
Demonstrates how newborn screening enables early diagnosis and timely intervention before symptom manifestation, significantly altering disease trajectory.
Long-term Transplant Outcomes
10-year follow-up of HSCT recipients showing graft stability, somatic improvement, and neurocognitive preservation when performed early in disease course.
ERT Bridge Strategy Efficacy
Evaluation of enzyme replacement therapy as a bridge to transplantation, demonstrating stabilization of progressive features prior to HSCT.
Cognitive Trajectories Post-HSCT
Longitudinal neuropsychological assessment showing stabilization and modest improvement in cognitive outcomes following early HSCT with CNS-directed approaches.
Quality of Life in Survivors
Patient and family-reported quality of life outcomes, functional capacity measures, and psychosocial impact following different treatment strategies.
Publications by Theme
To make it easier to explore, publications can be grouped by key themes in Hurler syndrome.
Natural History and Epidemiology
Incidence and Prevalence Studies
Multi-country epidemiological data (2020-2023)
Natural History Without Treatment
Clinical progression and disease milestones
Impact of Newborn Screening
Early diagnosis timing and outcome improvements
HSCT and ERT Outcomes
Transplant Survival and Graft Outcomes
Short and long-term engraftment rates
Somatic, Cardiac and Respiratory Outcomes
Multi-organ improvement after HSCT
HSCT Timing and Neurocognition
Impact of early intervention on brain outcomes
ERT Alone and Bridge Strategies
Enzyme replacement therapy efficacy and combinations
Neurocognition, Brain and Behaviour
Cognitive Trajectories After HSCT
Neurodevelopmental outcomes and preservation
Brain Imaging and Development
MRI findings and neurostructural changes
Behavioural and Educational Outcomes
School performance and psychosocial adaptation
Skeletal, Cardiac and Respiratory Disease
Dysostosis Multiplex Progression
Skeletal disease manifestation and surgical management
Valve Disease and Cardiomyopathy
Cardiac complications and surgical outcomes
Airway and Respiratory Management
Sleep apnoea, obstruction, and anaesthetic considerations
Quality of Life and Patient-Reported Outcomes
Health-Related Quality of Life Scales
Validated measurement instruments
Pain, Mobility and Daily Function
Physical outcomes and independence
Family and Carer Impact
Psychological and social burden
Gene Therapy and Advanced Therapies
Preclinical Systemic Gene Therapy
Vector development and delivery platforms
CNS-Directed Gene and Cell Approaches
Blood-brain barrier crossing strategies
Early Human Data
Phase I/II results in MPS I and related conditions
Clinical Guidance Documents
International Guidelines on MPS I
Comprehensive international consensus guideline covering diagnosis, newborn screening protocols, enzyme replacement therapy, HSCT decision-making, and long-term follow-up strategies.
Access GuidelineAnaesthetic Management in MPS
Practical guidance on anaesthetic and perioperative management for patients with MPS-related complex airway anatomy, skeletal deformities, and cardiac involvement.
Access GuidelineHSCT Consensus Statements
Consensus recommendations on optimal timing of HSCT, donor selection, conditioning regimens, graft-versus-host disease management, and neurocognitive monitoring.
Access GuidelineTransition and Adult Care Framework
Framework for transition from paediatric to adult care, including long-term outcome monitoring, reproductive counselling, and multidisciplinary care coordination.
Access GuidelinePublications from Our Team and Partners
Novel Vector Design for Systemic Delivery
Development and characterization of engineered vectors for improved hepatic targeting and reduced immunogenicity. Demonstrates efficacy in preclinical MPS I-H models with enhanced therapeutic effect.
Preclinical gene therapy programme Read PaperBlood-Brain Barrier Penetration Strategies
Novel approaches to deliver therapeutics across the BBB in MPS I-H using pseudotyped vectors and transient BBB opening. Shows CNS enzyme activity in treated models.
Translational roadmap Read Paper👥 For Clinicians and Researchers
- Rapidly identify landmark MPS I-H papers
- Build teaching sessions and journal clubs
- Support guideline development and proposals
- Direct colleagues to evidence-based reviews
📘 For Families and Adults
- Scientific papers are written for professionals
- Single cases don’t reflect most outcomes
- Always discuss treatment ideas with specialists
- Research may not yet be routine care
Updates and Suggestions
The evidence base for Hurler syndrome is evolving. We review and update this publications list periodically. Clinicians, researchers and families are welcome to suggest peer-reviewed articles for inclusion.
Submit Article Suggestion →Key Points About the Publications Hub
- Curated, topic-based overview of key publications and guidelines in Hurler syndrome (MPS I-H)
- Content grouped by theme with short plain-language summaries for diverse audiences
- Landmark guidelines and consensus statements highlighted for clinical decision-making
- Publications from our team and collaborators clearly identified in the wider research context
- Families encouraged to use alongside specialist input, not as a substitute for medical advice
What to read next
Research hub
Main research themes and programmes
Scientific background
Mechanisms and biology of Hurler syndrome
Unmet need
Residual morbidity and quality of life after HSCT/ERT
Current standard of care
HSCT, ERT and multidisciplinary management
Clinical trials
How trials work and what they measure
Other investigational approaches
Broader research directions beyond systemic gene therapy