A registry is a structured system for gathering and managing data over time. At INPDR, this means bringing together both clinical information and lived experience to create a more complete, reliable understanding of these rare conditions.

What the registry collects​

The INPDR captures a wide range of information to reflect both the clinical and day-to-day realities of Niemann-Pickdiseases, including:​

• Demographic information​
• Diagnostic pathways and test results​
• Clinical symptoms and disease progression​
• Treatments and interventions​
• Health outcomes​
• Patient-reported experiences and quality of life​

All data is carefully reviewed and managed to ensure it is accurate, consistent, and meaningful. This process creates curated data—high-quality, structured datasets that can be confidently used for research, clinical insight, andevidence generation.

The two parts of the INPDR

Patient Reported Database (PRD)​

The PRD captures information shared directly by patients and families. This includes insights into day-to-dayexperiences, symptoms, and the wider impact of the disease on quality of life.​

This perspective is essential for understanding aspects of the condition that may not always be visible in clinicalsettings, ensuring that the patient voice is meaningfully represented.​

Clinical Research Database (CRD)​

The CRD collects data provided by clinicians and healthcare professionals. This includes medical history, diagnosticinformation, clinical assessments, and treatment details.​

This dataset provides a robust clinical foundation, enabling a deeper understanding of how Niemann-Pick diseasesare diagnosed, monitored, and managed in practice.​

How the PRD and CRD work together​

While each database provides valuable insights on its own, their real strength lies in how they work together.​

By combining patient-reported experiences with clinician-reported data, the INPDR creates a more complete pictureof Niemann-Pick diseases—linking clinical outcomes with real-world impact. This integrated approach helps to:​

• Validate and enrich clinical findings​
• Highlight differences between clinical measures and lived experience​
• Provide a more holistic understanding of disease progression​
• Strengthen the evidence base for research and treatment evaluation​

​A global, collaborative resource​

The INPDR is actively supported by patients, families, clinicians, researchers, and patient organisations from over 20countries across five continents.​

Every contributor plays an important role in building this shared resource. Together, this growing global datasetprovides a stronger foundation for advancing research, improving clinical understanding, and ultimately supportingbetter outcomes for people affected by Niemann-Pick diseases.