For Patients

What is the INPDR?

The INPDR is a registry established to collect data and tell the patient experience. This was a vision shared by the collaborating patients, health professionals and medical researchers, who wished to encourage efficient and timely diagnosis, improve access to expert care and treatment, and to facilitate research that would improve patient experience.

The International Niemann-Pick Disease Registry (INPDR) is a disease-specific registry managed by professionals for the benefit of the whole Niemann-Pick diseases community: patients, clinicians, researchers and industry. An international registry for Niemann-Pick diseases is particularly important as with incidence of less than 1 in 100,000 persons it is very rare, encompassing Acid Sphingomyelinase Deficiency (ASMD, types A & B) and Niemann- Pick disease type C (NPC) which have distinct but overlapping clinical features ranging from a neonatal fatal disorder to an adult onset, chronic debilitating neurodegenerative disease.

The INPDR was established to relieve sickness amongst affected individuals through the advancement of education in all matters concerning Niemann-Pick diseases. This includes facilitating research that will improve understanding, enable therapy development and empower patients, whilst ensuring compliance with data protection and highest clinical standards.

To facilitate the advancement of research that will relieve sickness amongst individuals affected by Niemann-Pick diseases, by developing and maintaining a high-quality longitudinal global population-based registry.

  • To describe the epidemiology and natural history of ASMD Niemann-Pick disease and Niemann-Pick type C.
  • To support development of standards of diagnosis, clinical management and quality of care.
  • To improve access to biomedical and genetic testing.
  • To establish genotype-phenotype correlations.
  • To facilitate clinical research through data sharing and provision of analytical services.
  • To accelerate progress in the understanding of Niemann-Pick diseases and support the education of health professionals and researchers.
  • Provide evidence to enable advocacy and inform public debate and decision-making.
  • To support network development and collaboration across the patient, clinical and research community.
  • To support regulatory interaction between national/supernational medicines agencies and pharmaceutical companies.
  • To facilitate accelerated recruitment to interventional studies.
  • Protect patient privacy and ensure compliance with data protection and the highest clinical standards.