Observational disease registries

What is an observational disease registry?

An observational registry (also known as a patient registry) is a way for the patient and medical community to learn from you and other people who like you have been diagnosed with a rare disease. The anonymised information we collect and securely store in password-protected data-bases reflects your regular routine and day-to-day experience of living with a rare disease. The ultimate aim is to help understand and improve the lives of people in a similar situation and participation is entirely voluntary.

How can I participate and what is expected of me?

If you are interested in learning more about our registries or about taking part, you will receive appropriate information specific to the register that is looking into your rare disease. You will need to read and sign a written informed participation consent form with the help of our registry team. People aged 16 or over are entitled to consent for themselves but if you are younger than 16 years, your parent or guardian will have to be willing to sign as well.

What is an Informed Consent Form (ICF)?

The ICF describes how the study involves you and if there are any potential risks or benefits of participation.

By signing, you agree to be part of the registry, however you can decide at any time to no longer participate for any reason. In no way will this affect your treatment or care.

Will taking part involve more tests?

No, you can expect to attend your medical appointments as you normally would – there are no extra visits. You will not have any extra tests or investigations but usually we will hand out additional questionnaires when you attend the Lysosomal Disorder Unit or post them to you before you come for an appointment. The questionnaires are designed to find out how your health and wellbeing are progressing. However, if you prefer not to complete questionnaires, we can usually accommodate for that.

Will my privacy be protected?

We completely understand that privacy and confidentiality are of the utmost importance to you, and we will take all possible efforts to ensure that your privacy and confidentiality are respected, maintained and protected at all times.

All our Registries conform to the ethical requirements and to legislation on data protection. The informed consent form can tell you more about that, or please ask the registry team or your doctor about this if you are at all concerned.

What are the benefits of collecting information about rare diseases?

• To look at numbers and trends.
• To improve our understanding and help research into prevention and better treatment.
• To support people who are affected and their families, by giving them relevant evidence- based information.
• To give health professionals data so they can monitor and improve their clinical practice.
• To help plan, evaluate and develop fit-for-purpose NHS Services.

Thank you!

Rare diseases altogether affect about 3.5 million people in the UK and, because they are rare, can be difficult to diagnose, treat and/or prevent – that is why the information you give us is invaluable to the rare disease community.

Contact us

LDU Box 135, Addenbrooke’s Hospital, Hills Road, Cambridge. CB2 0QQ

Tel: 01223 274634

Email: IDU Cambridge

Website: Lysosomal-disorders

If you would like more specific information about the register you are participating in or are considering participating in, please contact the registry team.

Registry team:

Research Nurse- Anne Marie Winstone Registries Administrator - Andrea Clark

Tel: 01223 274634

Email: IDU Cambridge

Please note the department is open Monday to Friday 08:30-17:00.

If you are unwell outside of these hours you should seek medical advice from your local healthcare team.

If your emergency doctor needs specific advice, they should call the hospital switchboard on 01223 245151 and ask for the metabolic consultant on call