Posters
Supporting shared decision-making in Pompe disease: Making complex treatment evidence accessible for patients. POMPE DISEASE | 02/2026. Poster presented at WORLD Symposium February 2026, San Diego
Empowering Fabry Conversations: Bridging the Communication Gaps. FABRY | 02/2026. Poster presented at WORLD Symposium February 2026, San Diego
Insights from Patients, Caregivers and Healthcare Professionals on the Challenges of Lysosomal Disorders. LYSOSOMAL DISORDERS | 02/2026. Poster presented at WORLD Symposium February 2026, San Diego
Barriers and facilitators to clinical trial participation: improving accessibility, logistics and awareness. FABRY | 02/2025. Poster presented at WORLD Symposium February 2025, San Diego
Medical Education Needs to Improve Diagnosis of Fabry Disease in the UK. FABRY | 01/2024. Poster presented at WORLD Symposium February 2024, San Diego
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 WORLD Symposium February 2024, San Diego
Barriers to Participation in Clinical Trials. RARE DISEASES | 02/2022. Poster presented at WORLD Symposium February 2022, Orlando
Mortality in patients with Alpha-mannosidosis. ALPHA-MANNOSIDOSIS | 03/2022. Poster presented at WORLD Symposium February 2022, Orlando
The importance of early diagnosis and views on newborn screening in Metachromatic Leukodystrophy. MLD | 03/2022. Poster presented at WORLD Symposium February 2022, Orlando
Metachromatic leukodystrophy burden of disease. MLD | 03/2022. Poster presented at WORLD Symposium February 2023, San Diego
Diagnosis of Fabry disease in the UK. FABRY | 03/2022
The impact of COVID-19 on Fabry patients receiving enzyme replacement therapy (ERT). FABRY | 03/2022
Prevalence of intestinal disease as terminal even in Mucopolysaccharidosis Type III – A study of 136 deceased patients. MPS III | 02/2020. Poster presented at WORLD Symposium February 2020, Orlando
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
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 WORLD Symposium February 2021, San Diego
Maintaining access to clinical trials during the COVID-19 pandemic. RARE DISEASES | 03/2021
Diagnosis of mucopolysaccharidoses in the UK. MPS (ALL) | 03/2021
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 WORLD Symposium February 2020, Orlando
Supporting adults living with mucopolysaccharide (MPS) diseases: Understanding current experiences and future challenges. MPS (ALL) | 02/2020. Poster presented at WORLD Symposium February 2020, Orlando
Audit of a rare disease clinical trial support service. RARE DISEASES | 01/2020. Poster presented at WORLD Symposium February 2020, Orlando
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
Burden of illness in Sanfilippo disease (MPS III) - results from and international caregiver survey. MPS III | 03/2019. Poster presented at WORLD Symposium February 2019, Orlando
Pathway to diagnosis in Sanfilippo disease (MPS III) – results from an international caregiver survey. MPS III | 03/2019. Poster presented at WORLD Symposium February 2019, Orlando
Understanding Fabry in families: Preliminary findings from a global survey. FABRY | 03/2019. Poster presented at WORLD Symposium February 2019, Orlando
Patient reported outcomes in MPS IVA patients receiving enzyme replacement therapy. MPS IVA | 03/2019. Poster presented at WORLD Symposium February 2019, Orlando
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
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
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 WORLD Symposium February 2018, San Diego
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
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
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
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
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