Home › Data, registries and advocacy › Registries
Registries in Hurler syndrome (MPS I-H)
Registries are secure systems that bring together information from people living with Hurler syndrome over long periods of time. They help build a clearer picture of how the condition progresses, how treatments such as HSCT and ERT perform in everyday care, and where services can improve.
This page explains what registries are, what they usually record, how they are used, and what participation means for families and professionals.
This information is intended for families, patient advocates, clinicians and researchers. It does not promote any single registry.
Why data and advocacy matter Follow up & registries for professionals Living with Hurler syndrome
Secure health data connecting people, care and research
What do we mean by a registry?
A registry is an organised way of collecting medical information from many people who share the same condition. For Hurler syndrome, this means recording diagnosis details, treatments, and how health changes over time in a consistent and structured way.
- Basic background information such as year of birth and region
- How and when the diagnosis was made
- Enzyme activity and genetic test results
- Details of HSCT and ERT
- Follow up findings for heart, lungs, bones, brain, hearing and vision
- Surgeries, hospital admissions and major complications
- Growth, development and quality of life measures
Most analysis is done using coded information, rather than names or direct identifiers.
Different kinds of registries
Many individuals with Hurler syndrome are included in more than one registry, each serving a different purpose.
Hospital or centre-based
Managed by a single specialist team and focused on patients cared for in that service.
National registries
Combine information from multiple centres within one country to support service planning.
International registries
Bring together data from many countries to answer questions that need large numbers.
Treatment or trial-linked
Connected to a specific therapy or study, often with enhanced safety monitoring.
What gets recorded and when
- At diagnosis or first specialist visit
- Before and after HSCT or treatment changes
- Regular follow up during childhood
- Key life transitions such as school or adult care
- Heart scans, breathing tests and imaging results
- Growth and neurodevelopment assessments
- Orthopaedic findings and mobility
- Hearing, vision and daily functioning
- Hospital admissions and infections
How registry participation can help
- Supporting future families by improving understanding of long term outcomes
- Making Hurler syndrome visible to decision makers and health authorities
- Identifying gaps or delays in diagnosis and care
- Helping shape future research and clinical trials
Taking part is always optional, and families can usually change their decision later.
What does joining a registry involve?
- A team member explains the registry and provides written information
- You have time to ask questions before giving consent
- Information from routine care is entered securely
- Some registries include optional questionnaires about daily life
Choosing not to take part does not affect clinical care, and permission can usually be withdrawn for future data collection.
How registries change practice
- Understanding how age at HSCT influences long term outcomes
- Identifying common complications after transplant or during ERT
- Refining follow up schedules and monitoring strategies
- Tracking quality of life across childhood and adulthood
Registry findings also support guideline development and discussions with funding bodies.
Keeping your information safe
- Clear, informed consent in plain language
- Secure storage with restricted access
- Use of coded or pseudonymised data
- Right to ask questions at any stage
If anything is unclear, families should feel comfortable asking for further explanation.
Questions to ask about any registry
- Who manages the registry and where is it based?
- What information will be collected?
- How is identity protected?
- Will results be shared with families?
- Can participation be stopped later?
- Are data fields aligned with core outcome sets?
- How is data quality monitored?
- What are the rules for data access and publication?
Registries, trials and new therapies
- Highlighting ongoing unmet need despite current treatments
- Supporting planning and delivery of future trials
- Monitoring long term safety of advanced therapies
Being part of a registry does not automatically enrol someone in a trial.
Registries at a glance
- They collect long term, structured information
- They support better care, research and advocacy
- Participation is voluntary and confidential
- Families and professionals all contribute to data quality
Data & advocacy
Follow up & registries
Living with Hurler syndrome
Support organisations
Unmet need
Clinical trials
Home > Data, registries and advocacy
Data, registries and advocacy for Hurler syndrome (MPS I-H)
Strong data can change lives. In Hurler syndrome, carefully collected clinical information, long-term registries and coordinated advocacy help improve diagnosis, access to treatment and long-term outcomes for children, adults and families.
This page explains how registries and data are used in MPS I-H, why participation matters, and how shared evidence supports real-world change.
For families, patient advocates, clinicians and researchers interested in data, policy and long-term follow-up in MPS I-H.
Data & people connected
Why data is so important in a rare disease
Hurler syndrome is extremely rare. No single hospital or country can answer all clinical questions alone. By combining information across centres and over time, meaningful patterns begin to emerge.
- Shared data shows trends beyond individual patients or clinics.
- Registries allow long-term follow-up from childhood into adulthood.
- High-quality evidence supports access to new therapies and fair funding.
- Clear data strengthens the collective voice of the MPS I-H community.
What is a Hurler syndrome registry?
A registry is a secure system that gathers structured information about people living with Hurler syndrome. The goal is to understand the condition better, improve care and guide future research.
- Basic background such as birth year, sex and country
- Diagnostic results including enzyme and genetic testing
- Treatment history such as HSCT or enzyme replacement therapy
- Ongoing follow-up of organs, development and quality of life
- Hospitalisations, surgeries and clinical complications
Personal details are usually coded before analysis. Each registry follows defined consent and data-protection standards.
Further detail from the source pages
More: Data, registries & advocacy5 sections
How registry data are used
- Understanding survival and long-term outcomes after HSCT or ERT
- Tracking frequency of surgeries, hospital stays and complications
- Identifying common heart, lung, bone and neurological issues
- Measuring impact on education, work and daily independence
- Comparing care approaches between centres and countries
Registry findings inform guidelines, funding decisions and the design of future clinical trials.
How families help shape the future
Registries rely on families who are willing to share information and remain connected with specialist teams over time.
- Participation is voluntary and withdrawal is always possible.
- Individual data are confidential, but combined results benefit all.
- Positive outcomes show what is achievable for newly diagnosed families.
- Challenges highlight areas where care urgently needs improvement.
Living with Hurler syndrome | Patient stories
Turning numbers into change
Advocacy transforms data and lived experience into better policies, services and access to treatment.
- Demonstrating that MPS I-H remains lifelong despite treatment
- Providing real-world evidence of care and support needs
- Highlighting inequalities between regions and health systems
- Supporting decisions on funding therapies and newborn screening
Privacy, consent and trust
- Clear information on what data are collected and why
- Secure storage and restricted access
- Pseudonymisation wherever possible
- The right to withdraw from future analyses
Data, registries and advocacy at a glance
Home > Data, registries and advocacy > Get involved
More: Get involved6 sections
Get involved: make a difference in Hurler syndrome (MPS I-H)
Everyone connected to the Hurler syndrome community has something valuable to contribute. By sharing data, taking part in registries, supporting advocacy efforts and raising awareness, families, clinicians and researchers help improve diagnosis, treatment and long-term outcomes for children and adults around the world.
This page is for families, patient advocates, healthcare professionals, researchers and supporters who want to help move MPS I-H care and research forward.
Why your involvement is so important
Hurler syndrome is extremely rare, which means that every experience, data point and voice matters. When families and professionals participate in registries, share insights and support advocacy, they help shape better care and future treatments for everyone affected.
How families and carers can help
How healthcare professionals can contribute
- Participate in registries and long-term follow-up programmes.
- Refine local care pathways using guidelines and registry insights.
- Collaborate with patient organisations on clear, family-friendly materials.
- Support advocacy by sharing evidence, summaries or expert perspectives.
- Teach and mentor colleagues to raise awareness of Hurler syndrome.
How researchers can drive progress
- Design projects aligned with priority areas such as CNS involvement and long-term outcomes.
- Use and strengthen registries to improve data quality and relevance.
- Share findings clearly with both scientific and non-scientific audiences.
- Collaborate across centres to increase sample sizes and shared learning.
- Provide accessible data to support advocacy and policy discussions.
Practical ways to support data and registries
- Encourage accurate, complete data entry in clinics and registries.
- Keep contact information up to date to support long-term follow-up.
- Help translate lived experience into meaningful outcome measures.
- Advocate for sustainable funding for registries and data analysis.
More: Get involved — part 26 sections
Getting involved in policy and advocacy
You do not need specialist policy knowledge to contribute. Small, regular actions can help influence systems and improve access to care over time.
- Stay informed through trusted patient organisations.
- Respond to public consultations on rare disease strategies.
- Use agreed, evidence-based messages when speaking with decision makers.
- Join awareness events and campaigns.
Helping through time, skills or donations
- Volunteer with patient organisations.
- Fundraise for research or family support services.
- Offer professional skills such as IT, design, legal or communications support.
- Support other families through peer networks and moderated groups.
How to start getting involved today
- Connect with an MPS or rare disease organisation in your country.
- Ask your clinical team about registries or follow-up projects.
- Learn how data, guidelines and advocacy fit together.
- Choose one manageable action for the coming months.
Get involved at a glance
- Everyone in the Hurler syndrome community can play a meaningful role.
- Families support progress through registries, follow-up and shared experiences.
- Clinicians and researchers contribute through collaboration and high-quality data.
- Patient organisations coordinate advocacy and welcome volunteers and supporters.
- Small, consistent actions lead to lasting change.
Data, registries and advocacy
How evidence and advocacy work together.
Registries
What registries are and how to join them.