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Follow-up and Registries in Hurler Syndrome (MPS I-H)
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Follow-up and registries in Hurler syndrome (MPS I-H)

Lifelong follow-up and high-quality registry data are central to understanding outcomes in severe MPS I (Hurler syndrome). As survival improves with HSCT and ongoing ERT, consistent surveillance and contribution to local, national and international registries enable teams to track late effects, refine care pathways, and strengthen future research, including advanced therapies.

For healthcare professionals only. This content supports clinical practice but does not replace local protocols or registry-specific guidance.
Long-term outcomes & surveillance Multidisciplinary care & clinic structure Research hub & publications
Visual concept
Stacked charts, patient timeline & registry icon (site palette)

Why follow up and registries matter

Hurler syndrome remains a lifelong condition, even after successful HSCT or prolonged ERT. A structured follow-up programme helps teams:

  • Identify and address late complications affecting cardiac, respiratory, skeletal, neurological and other systems.
  • Track neurocognitive development and functional outcomes from childhood into adult life.
  • Assess real-world effectiveness of HSCT, ERT and investigational approaches.
  • Generate robust data to inform guidelines, health technology assessment and research priorities.

Registries extend the value of local care by pooling data across centres and countries, clarifying natural history, post-treatment outcomes and unmet need at scale.

Long-term outcomes · Unmet need

What should be monitored over time

While schedules vary by age and clinical context, comprehensive follow-up usually includes:

Growth & development

  • Height, weight, head circumference (young children), pubertal staging
  • Standardised developmental and cognitive assessments at agreed intervals

Cardiac

  • Serial echocardiography and ECG
  • Monitoring of valve disease, ventricular function and pulmonary pressures

Respiratory & ENT

  • Sleep studies where indicated
  • Airway review and lung function testing in older patients

Skeletal & orthopaedic

  • Spine, hip and lower limb assessment
  • Targeted imaging, pain and mobility review

Neurological & CNS

  • Neurological examination
  • MRI as clinically indicated; screening for myelopathy and hydrocephalus

Vision & hearing

  • Ophthalmology and audiology follow-up
  • Input to aids and education planning

Quality of life & function

  • Patient- and family-reported outcomes
  • Participation, independence and school attendance

Multisystem management · Living with Hurler syndrome

Organising follow up in practice

Follow-up works best when delivered through coordinated multidisciplinary pathways.

  • Run joint metabolic or metabolic–transplant clinics with core specialties present or readily available.
  • Agree standard review intervals (e.g., 3–6 monthly in early childhood; annually or biennially in stable older patients), adjusted to need.
  • Plan reviews around milestones such as pre/post-HSCT, school transitions, adolescence and transfer to adult services.
  • Consolidate results into a single clinic summary that can also populate registry entries.

Multidisciplinary care · Transition to adult care

Typical data fields for MPS I-H registries

Patient & diagnosis

  • Age at diagnosis, sex, family history
  • Newborn screening status
  • Biochemical/molecular results; phenotype classification

Treatment exposure

  • HSCT: age, donor, conditioning, engraftment/chimerism
  • ERT: start/stop dates, dosing, reasons for change

Organ & functional outcomes

  • Cardiac, respiratory, skeletal, neurological assessments
  • Neurocognition, education placement
  • Mobility, ADLs, pain scores

Safety

  • Transplant-related complications
  • Serious infections and infusion reactions
  • Late effects

Quality of life

  • Patient-reported outcomes
  • Participation and wellbeing measures

Research hub · Publications

How healthcare professionals contribute

  • Identify eligible patients and discuss registry participation with families.
  • Obtain informed consent in line with ethical and regulatory frameworks.
  • Enter or validate data at diagnosis, HSCT and defined follow-up points.
  • Maintain accuracy and completeness, particularly for outcomes and adverse events.
  • Use registry reports to benchmark outcomes and support shared decision-making.
Who does what?
Specialist nurses or data coordinators may support data entry; clinicians remain accountable for clinical accuracy and interpretation.

For healthcare professionals

Consent, confidentiality and data quality

  • Participation should be voluntary and clearly distinct from routine clinical care.
  • Provide age-appropriate information and involve young people in decisions where possible.
  • Comply with local and national requirements for data protection, pseudonymisation and sharing.
  • Audit registry data periodically and update key fields (e.g., survival status, HSCT outcomes, major surgeries).
  • Be transparent about how aggregated data may be used (publications, service planning, trial design).

Planning ahead

Turning data into better care

  • Benchmark local outcomes against pooled registry data to identify strengths and gaps.
  • Use long-term outcome trends to counsel families about realistic expectations.
  • Detect patterns of late complications that may prompt changes to surveillance protocols.
  • Support business cases and resource planning within hospitals and networks.

Long-term outcomes · Research hub overview

Registries and advanced treatment landscapes

  • Established HSCT and ERT cohorts provide essential comparators for emerging gene and cell therapies.
  • Registries can evolve to capture exposure and outcomes for new treatments, including safety and durability.
  • Longitudinal datasets help define residual unmet need, informing trial design and regulatory dialogue.
  • Consistent data capture across cohorts strengthens future comparisons.

Rationale for gene therapy · Clinical trials

Making follow up and registries workable

  • Map clinic templates and letters to registry variables for efficient extraction.
  • Use checklists or pro formas to avoid missed assessments.
  • Define roles for data entry and protect time where feasible.
  • Start with a focused core dataset and expand as capacity grows.
  • Bring registry outputs into MDT meetings and teaching to demonstrate value.

Downloadable guides

Key messages on follow up and registries

  • Lifelong, structured follow-up is essential to monitor organ function, neurocognition and quality of life after HSCT and ERT.
  • Registries strengthen clinical care by aggregating outcomes across centres and countries.
  • Clinicians are central to consent, data quality and meaningful interpretation.
  • High-quality data improves counselling, service planning and evaluation of new therapies.
  • Aligning clinic workflows with registry requirements supports sustainability.

Long-term outcomes

Survival, organ outcomes and quality of life data

Multidisciplinary care

Organising surveillance and MDT reviews

Multisystem management

Organ-specific management principles

HSCT & ERT guidance

Indications, timing and long-term roles

Research hub

Background, emerging therapies and translational work

Publications & scientific resources

Key papers and guidelines in MPS I-H
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