For Patients

For Patients

Niemann-Pick Diseases are a group of rare and devastating inherited lysosomal storage disorders that can affect both children and adults.

The INPDR empowers Niemann-Pick Disease patients and their families by giving the opportunity for their vital patient data to redefine the future of the condition.

We cannot do this without your help – the INPDR can show the power of patient data and experience.

When you, your child or loved one is diagnosed with Niemann-Pick Disease it can have a profound effect on your whole family. For many people, a diagnosis of Niemann-Pick Disease does not happen instantly and can come at the end of weeks or months of tests and investigations.

Niemann-Pick Disease in all of its forms is incredibly rare:

Acid Sphingomyelinase Deficiency (ASMD) includes Niemann-Pick Disease type A (NP-A) and type B (NP-B), which are caused by a lack of the enzyme acid sphingomyelinase leading to a build-up of toxic materials in the body.

Niemann-Pick Disease Type C (NP-C) is a hugely life-limiting neurodegenerative disease caused by an accumulation of lipids (fats) in the liver, brain and spleen.

By using this global initiative and providing a centralised location through which research can be encouraged, we stand a better chance of furthering the search for effective therapies and one day, a cure.

The Registry is made up of Clinician Reported Data (CRD) and Patient Reported Data (PRD). Both are collected electronically through a secure, web-based platform.

Clinician Reported Data is added when a patient gives their consent for their clinician to share their anonymous medical data, including demographic data, biochemical and genetic testing results, symptoms and treatments from the patient’s first visit and follow-up appointments.

Patient Reported Data is added directly by the patient. It is collected through a questionnaire that asks quality of life questions to capture the wider disease impact.

Both types of data are incredibly useful in progressing research, treatment and care – even if they are added in isolation – but they are likely to have greater impact if both types are added for a patient.

You can find out more about the INPDR, signing up and what happens to your data by choosing one of the options in the dropdown menu.

If you need care or support, you can find out more about Niemann-Pick Disease and patient support through one of the many patient groups we work with.

Visit the International Niemann Pick Disease Alliance website where you will find details about a range of patient groups around the world or get in touch with us for more details.