At Niemann-Pick UK (NPUK), our mission is to drive transformative research into Niemann-Pick diseases, a group of rare, life-limiting genetic disorders. For over three decades, we have been at the forefront of supporting innovative research, fostering collaboration, and advancing treatments to improve the lives of those affected by Niemann-Pick Types A, B, and C.
Research Achievements
Funding Groundbreaking Studies
Over £X million invested in research projects since our founding in 1991.
Supported studies exploring novel therapies, including enzyme replacement, gene therapy, and small molecule treatments.
Facilitated clinical trials in partnership with leading academic institutions and pharmaceutical companies.
Building a Research Network
Established collaborations with global experts in lysosomal storage disorders.
Partnered with organisations like the International Niemann-Pick Disease Alliance (INPDA) to share knowledge and resources.
Hosted annual research symposia to bring together scientists, clinicians, and families to accelerate progress.
Advancing Patient-Centred Research
Created the NPUK Patient Registry, a vital tool for researchers studying disease progression and treatment outcomes.
Supported biomarker discovery to improve diagnosis and monitor treatment efficacy.
Advocated for patient involvement in research design to ensure studies address real-world needs.
Our Research Expertise
Our team and partners include leading researchers, clinicians, and patient advocates dedicated to Niemann-Pick diseases. Key areas of expertise include:
Molecular Biology and Genetics: Investigating the genetic mutations underlying Niemann-Pick diseases.
Clinical Research: Designing and supporting trials to evaluate new therapies.
Patient Support Integration: Combining research with practical support to enhance quality of life.
Key Milestones
1990s: Funded early studies on the genetic basis of Niemann-Pick Type C.
2000s: Supported the development of miglustat, one of the first approved treatments for NPC.
2010s: Contributed to the identification of new biomarkers for early diagnosis.
