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HCP quick reference

1

Recognise early and refer urgently

When Hurler syndrome is suspected, prompt contact with a specialist inherited metabolic disease service is important, especially in young children.

2

Diagnosis is multi-step

Diagnosis is based on clinical assessment plus biochemical and molecular confirmation, with newborn screening acting as an early flag in some settings.

3

Current treatment pillars

Clinical care is built around HSCT, ERT with laronidase, and long-term multidisciplinary supportive care.

4

HSCT remains central in severe MPS I-H

Early transplant assessment is important for children with confirmed severe disease who are suitable candidates.

5

Peri-anaesthetic risk needs planning

Airway narrowing, cervical spine pathology, and cardio-respiratory involvement can significantly increase sedation and anaesthetic risk.

6

Shared-care matters long term

Patients often require coordinated follow-up across cardiology, respiratory, orthopaedics, ENT, ophthalmology, audiology, neurology, and developmental services.

Structured approach

1

Clinical suspicion

Consider Hurler syndrome in infants or young children with multisystem features such as recurrent infections, hernias, coarse facial features, developmental concerns, skeletal or joint abnormalities, and organ involvement.

2

Urgent metabolic referral

Do not wait for every result before discussing with a specialist metabolic team. Early referral supports faster assessment and time-sensitive treatment planning.

3

Initial diagnostic work-up

Coordinate local and specialist testing pathways. Newborn screening may identify low IDUA activity first in some countries, but screening is not diagnostic on its own.

4

Biochemical and molecular confirmation

Confirm diagnosis using enzyme and genetic testing in line with local practice, and interpret findings alongside clinical features.

5

Phenotype stratification and HSCT assessment

Differentiate severe MPS I-H from attenuated forms and assess treatment pathway suitability with a recognised metabolic and transplant centre.

6

Shared-care plan and surveillance

Establish a multidisciplinary follow-up plan with clear responsibilities between the specialist centre and local teams.

Rapid referral checklist

Use in clinic / ward

If Hurler syndrome is a possibility, early specialist discussion is better than delayed certainty. Use this as a practical prompt, not a replacement for local guidelines.

Before referral

• Document key clinical features and symptom timeline
• Record family history and any previous genetics or metabolic work-up
• Capture growth, neurodevelopment, and functional concerns
• Note prior surgeries, airway concerns, or anaesthetic issues

Flag for urgency

• Young child with multisystem findings suggestive of MPS I-H
• Positive newborn screen or low IDUA on screening pathway
• Progressive respiratory, cardiac, or neurodevelopmental concerns
• Need for anaesthesia or surgery before diagnosis is clarified

Shared-care communication

• Send referral summary to metabolic centre and relevant local specialists
• Identify a named local lead clinician
• Document emergency and perioperative risk considerations
• Arrange early MDT discussion where possible

Established care pillars

Pillar 1

HSCT

In severe MPS I-H, HSCT is a core disease-modifying treatment and is generally prioritised for suitable children, with timing and candidacy assessed by specialist teams.

Early assessment Transplant centre input Long-term follow-up

Pillar 2

ERT with laronidase

ERT supports somatic disease management, may be used around transplant pathways, and remains important in patients who are not transplanted or who have residual disease burden.

Somatic support Bridge to HSCT Ongoing therapy context

Pillar 3

Multidisciplinary supportive care

Supportive care is central, lifelong care. It is not an add-on. It often drives day to day quality of life and long-term function even after HSCT or during ERT.

Cardiac Respiratory Orthopaedic ENT Vision Hearing

Perioperative safety

Anaesthetic considerations

Hurler syndrome can carry higher risk during sedation, anaesthesia, and recovery. Airway narrowing, cervical spine pathology, and cardio-respiratory involvement should be identified early and planned for with senior anaesthetic support.

• Flag high-risk airways in advance
• Review cervical spine concerns before procedures
• Coordinate with anaesthesia and ICU teams where needed
• Share emergency information across teams

Shared-care surveillance

MDT domains to review regularly

Structured follow-up should be proactive. A practical MDT framework usually spans organ surveillance, development, function, and perioperative readiness.

• Cardiology: ECG and echo follow-up
• Respiratory / ENT: airway, sleep, infections, hearing
• Orthopaedics: spine, hips, joints, mobility
• Neurology / neurosurgery: CNS and cervical spine concerns
• Ophthalmology and audiology reviews
• Development, rehabilitation, psychosocial support

HurlerSyndrome.org HCP resources

This page can sit on DawnTherapeutics.com while directing detailed disease education to HurlerSyndrome.org. It keeps Dawn clinically useful for professionals without duplicating the full educational library.

Request a Medical Professional Information Pack

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What the pack can include

Suggested contents for the HCP pack

A polished PDF or slide-style pack for clinicians, hospitals, and MDT teams. You can tailor the pack by audience (general paediatrics, metabolic, ENT, orthopaedics, anaesthesia, ICU, etc.).

• Hurler syndrome overview and key recognition features
• Referral pathway summary for suspected MPS I-H
• HSCT and ERT care context (high-level clinician summary)
• Multisystem follow-up domains and perioperative alerts
• Links to detailed HCP education pages on HurlerSyndrome.org
• Dawn Therapeutics preclinical programme and contact details

Dawn can support professional education and partnership discussions. Dawn programmes are preclinical, and this page is not a clinical trial recruitment page.

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