Putting you in the heart of the rare community – International Niemann-Pick Disease Registry (INPDR)
Estimated reading time: 4 minutes
Patient advocacy groups deliver their top three unmet needs and main asks of industry to best serve their rare community. This week’s insights come from Maria Garrido, communications consultant, International Niemann-Pick Disease Registry (INPDR)
The International Niemann-Pick Disease Registry (INPDR) is a global, patient-led initiative that collects, curates and shares longitudinal real-world data on individuals affected by Niemann-Pick diseases, including both acid sphingomyelinase deficiency (ASMD) and Niemann-Pick type C (NPC). Established “by the community, for the community,” the INPDR empowers patients, families, clinicians and researchers by building a centralised resource to better understand the natural history of these ultra-rare conditions and accelerate progress in care, support and treatment.
As a non-profit organisation, the INPDR collaborates with clinical experts, industry partners regulators and patient advocacy groups to promote responsible data sharing and advance research. It is governed by a multi-stakeholder board and supported by a network of registered clinicians and INPDR Ambassadors who advocate for data-driven change.
Niemann-Pick diseases are a group of rare, progressive and life-limiting genetic conditions caused by the body’s inability to metabolise lipids (fats) properly. This leads to harmful accumulation in various tissues and organs, including the brain, liver and spleen. Symptoms vary widely but often include neurodegeneration, loss of motor and cognitive functions and organ failure. Diagnoses are often delayed due to the rarity and complexity of symptoms, and no cure currently exists. Early diagnosis and appropriate management are essential to improving outcomes and quality of life.
What are your top three unmet needs or main asks of industry to best serve your rare ecosystem?
Recognise the power of patient data. The INPDR provides a unique, structured platform of real-world, longitudinal data. We urge industry to leverage this resource early in the research and development process to better understand disease progression, identify meaningful endpoints and support regulatory submissions. Collaboration with registries like the INPDR can shorten timelines, reduce risks and lead to better patient-centred outcomes.
Invest in earlier diagnosis tools. Delays in diagnosis are among the most devastating challenges for families. Industry must prioritise the development of tools, technologies and awareness campaigns to support earlier detection—especially in primary care and paediatrics, where signs are often missed. Earlier diagnosis means earlier intervention, improved care and greater potential to benefit from emerging therapies.
Work with the community, Not just for it. Families and patients affected by Niemann-Pick diseases are experts in their lived experience. We ask industry to engage meaningfully and regularly with the community—through partnerships, advisory roles and shared decision-making. True impact comes from co-creation, not tokenism.
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