For Patients

Patients and Families

The Patient Reported Database is where you tell your experience of Niemann-Pick diseases. The data you provide, combined with other patient reported data and clinical data, will help report the story of patients and families affected by Niemann-Pick diseases. The data will support natural history studies, clinical research, health technology assessment and in real world evidence to determine the efficacy of therapeutics – in this way your data can affect real positive change. You can join right now!

What is a registry?

A registry is coming together of clinicians, patients and researchers to systematically collect data from a large number of individuals over a long period of time. By collecting data from NPD patients, caregivers and clinicians, we intend to support research to:

• Understand the natural history of NPDs
• Understand the impact of treatments and clinical care
• Support future NPD research
• Monitoring the safety and effectiveness of treatments

By putting the data in one place we are well on the way to building the worlds largest repository for Niemann-Pick disease patients which will allow researchers to answer questions more precisely and more quickly than ever before and to provide clinicians with more complete and accurate data to best inform their clinical care.

As an ultra-rare disease this is of the utmost importance as too often the potential for research to produce meaningful and timely outcomes is limited by the availability of patients and their data.

If you need care or support, you can find out more about Niemann-Pick diseases 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.

  • Niemann-Pick Diseases (NPD) are rare diseases, currently with no disease-specific treatment. The purpose of the INPDR is to understand the Niemann-Pick Diseases and the effects of clinical care. The INPDR aims to enrol children and adults with NPD in an international registry. By collecting the clinical data of NPD patients, we intend to:

    • Understand the natural history of NPDs
    • Understand effectiveness of treatments
    • Understand safety of treatments
    • Support future NPD research

  • No. It is up to you to decide whether or not you take part. It is important to understand that taking part in this study is voluntary. If you decide to join the INPDR, you are free to withdraw your consent at any time without a reason. This will not affect your medical care in any way.

    Before any of your health information is gathered, your doctor or nurse will explain about this study and you are asked to read this Participant Information Sheet and the Informed Consent Form thoroughly. If you are happy to take part and are satisfied with the explanations from your doctor or nurse, you will be asked to complete and sign the Informed Consent Form. A copy of the signed and dated participant information sheet and informed consent form will be given to you to keep.

  • If you agree to take part, you will need to sign the Informed Consent Form to confirm your participation in the INPDR. Your doctor or a member of their staff (such as a nurse) will review your medical records and may ask you questions about your health. You will not need to attend extra clinic visits or undergo extra testing for the INPDR; however, you should still attend your normal clinics. Your doctor or their staff will register you into the INPDR. Your doctor or their team member will then enter your clinical data into the INPDR registry. The following information will be entered:

    • Demographic data (sex, date of birth, ethnicity etc.)
    • Diagnosis
    • Health status
    • Treatment
    • Laboratory results
    • Imaging tests
    • Other relevant clinical information

    As well as deciding yourself to withdraw from the INPDR, your doctor can withdraw you if they feel participating is no longer in your best interest. The registry may also be stopped by the INPDR team or ethics committees if necessary.

  • There are no clinical risks to you by participating in the INPDR. You will not have to attend extra clinics or undergo extra testing by participating. All information collected by the INPDR will be held securely and we will protect your privacy.

    There are no costs to you for participating in the INPDR and there is no payment to you for participation. Your doctor may receive support (financial or otherwise) to deliver the INPDR.