Posters
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Supporting shared decision-making in Pompe disease: Making complex treatment evidence accessible for patients
POMPE DISEASE | 02/2026
Poster presented at WORLDSymposium February 2026, San Diego
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Empowering Fabry Conversations: Bridging the Communication Gaps
FABRY | 02/2026
Poster presented at WORLDSymposium February 2026, San Diego
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Insights from Patients, Caregivers and Healthcare Professionals on the Challenges of Lysosomal Disorders
LYSOSOMAL DISORDERS | 02/2026
Poster presented at WORLDSymposium February 2026, San Diego
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Psychometric validation of the MPS HAQ for mucopolysaccharidosis IVA
MPS IVA | 11/2025
Poster presented at ISPOR May 2025, Montreal
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Patients’ lived experience of thymidine kinase 2 deficiency (TK2d): results from the Assessment of TK2d Patient Perspectives (ATP) study
TK2d | 03/2025
Poster presented at Muscular Dystrophy Association Conference 2025 March 2025, Dallas
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Burden and impact of caring for those with thymidine kinase 2 deficiency (TK2d): results from the Assessment of TK2d Patient Perspectives (ATP) study
TK2D | 03/2025
Poster presented at Muscular Dystrophy Association Conference 2025 March 2025, Dallas
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Barriers and facilitators to clinical trial participation: improving accessibility, logistics and awareness
FABRY | 02/2025
Poster presented at WORLDSymposium February 2025, San Diego
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Co-creation of a shared decision-making toolkit for patients with Fabry disease and their treating clinicians
FABRY | 09/2024
Poster presented at SSIEM September 2024, Porto
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Unmet needs within the non-neuronopathic (attenuated) MPS II community
MPS II | 04/2024
Poster presented at IMPS Conference June 2024, Seattle
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An expressive writing intervention for parents of children with lysosomal storgae diseases to improve resilience and perceived stress: a pilot study in the UK
Lysosomal Storage Disorders | 04/2024
Poster presented at IMPS Conference June 2024, Seattle
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Medical Education Needs to Improve Diagnosis of Fabry Disease in the UK
FABRY | 01/2024
Poster presented at WORLDSymposium February 2024, San Diego
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The impact of Fabry symptoms on patients’ quality of life (QoL) and mental health - a qualitative interview study in the UK
FABRY | 02/2024
Poster presented at WORLDSymposium February 2024, San Diego
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Alpha-mannosidosis international caregiver and patient survey: changes in mobility, pain or discomfort, and patients' self-care over time
ALPHA-MANNOSIDOSIS | 02/2024
Poster presented at WORLDSymposium February 2024, San Diego
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Barriers to Participation in Clinical Trials
RARE DISEASES | 02/2022
Poster presented at WORLDSymposium February 2022, Orlando
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Mortality in patients with Alpha-mannosidosis
ALPHA-MANNOSIDOSIS | 03/2022
Poster presented at WORLDSymposium February 2022, Orlando
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The importance of early diagnosis and views on newborn screening in Metachromatic Leukodystrophy
MLD | 03/2022
Poster presented at WORLDSymposium February 2022, Orlando
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Metachromatic leukodystrophy burden of disease
MLD | 03/2022
Poster presented at WORLDSymposium February 2023, San Diego
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Diagnosis of Fabry disease in the UK
FABRY | 03/2022
Poster presented at WORLDSymposium February 2022, Orlando
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The impact of COVID-19 on Fabry patients receiving enzyme replacement therapy (ERT)
FABRY | 03/2022
Poster presented at WORLDSymposium February 2023, Orlando
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Identifying early indicators of mucopolysaccharidosis disorders using UK parent-held child health records
MPS (ALL) | 07/2021
Poster presented at 16th International Symposium on MPS and Related Diseases July 2021, Barcelona
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Understanding challenges for ultra-rare lysosomal storage disorders: Patient and caregiver experience of care and support through the disease journey
ULTRA-RARE LYSOSOMAL STORAGE DISORDERS | 03/2021
Poster presented at WORLDSymposium February 2021, Virtual
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Maintaining access to clinical trials during the COVID-19 pandemic
RARE DISEASES | 03/2021
Poster presented at WORLDSymposium February 2021, Virtual
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Diagnosis of mucopolysaccharidoses in the UK
MPS (ALL) | 03/2021
Poster presented at WORLDSymposium February 2021, Virtual, and RareSummit23 October 2023, Cambridge
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Prevalence of intestinal disease as terminal even in Mucopolysaccharidosis Type III – A study of 136 deceased patients
MPS III | 02/2020
Poster presented at WORLDSymposium February 2020, Orlando
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Understanding Fabry in Families Study – the availability of pedigree testing, genetic counselling and understanding of inheritance across Fabry International Network countries
FABRY | 02/2020
Poster presented at WORLDSymposium February 2020, Orlando
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Supporting adults living with mucopolysaccharide (MPS) diseases: Understanding current experiences and future challenges
MPS (ALL) | 02/2020
Poster presented at WORLDSymposium February 2020, Orlando
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Audit of a rare disease clinical trial support service
RARE DISEASES | 01/2020
Poster presented at WORLDSymposium February 2020, Orlando
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Disease Burden and Unmet Needs: Results from a New Survey in Adult Patients Receiving Enzyme Replacement Therapy for Pompe Disease in the United Kingdom
POMPE DISEASE | 09/2019
Poster presented at Muscle Study Group Annual Scientific Meeting September 2019, Snowbird
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Impact of Two-year Elosulfase Alfa Treatment on Patient-reported Outcomes in Patients with Morquio A: Results from and English Managed Access Agreement (MAA)
MPS IVA | 02/2019.
Poster presented at WORLDSymposium February 2019, Orlando
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Burden of illness in Sanfilippo disease (MPS III) - results from and international caregiver survey
MPS III | 03/2019
Poster presented at WORLDSymposium February 2019, Orlando
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Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver survey
MPS III | 03/2019
Poster presented at WORLDSymposium February 2019, Orlando
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Understanding Fabry in families: Preliminary findings from a global survey
FABRY | 03/2019
Poster presented at WORLDSymposium February 2019, Orlando
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Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapy
MPS IVA | 03/2019
Poster presented at WORLDSymposium February 2019, Orlando
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The challenges of diagnosing patients with an ultra-rare disease – insights from the European MPS VII study
MPSVII | 09/2018
Poster presented at The 3rd International Conference on Pediatrics and Pediatric Surgery May 2018, Frankfurt
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Diagnosis and disease burden of MPS VII – a European survey
MPS VII | 09/2018
Poster presented at The 15th International Symposium of the International MPS Network August 2018, San Diego and Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium September 2018, Athens
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Patient organisations working in partnership to research the patient experience of rare diseases – the Sanfilippo (MPS III) survey
MPS III | 03/2018
Poster presented at WORLDSymposium February 2018, San Diego
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Impact of elosulfase alfa treatment on patient-reported outcomes in Morquio A Syndrome
MPS IVA | 09/2017
Poster presented at 13th International Congress of Inborn Errors of Metabolism (ICIEM) September 2017, Rio de Janeiro
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The educational journey of individuals with MPS IVA Morquio Disease
MPS IVA | 08/2016
Poster presented at The 14th International MPS Symposium July 2016, Bonn
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Diagnosis and treatment of individuals with MPS II Hunter disease in the UK
MPS II | 08/2016
Poster presented at The 14th International MPS Symposium July 2016, Bonn
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The educational journey of individuals with MPS II Hunter Disease in the UK
MPS II | 08/2016
Poster presented at The 14th International MPS Symposium July 2016, Bonn
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Multi-stakeholder engagement leading to access to treatment for MPS IVA (Morquio A) – a model for the ultra-rare disease community
MPS IVA | 07/2016
Poster presented at The 14th International MPS Symposium July 2016, Bonn