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Pre-workshop reading: building a rare disease patient registry

17th September, 2019 – White & Case, London

Thank you for registering for Findacure’s  upcoming workshop on building a rare disease patient registry – we are all really looking forward to welcoming you in London on September 17th.

To ensure all attendees are able to start the workshop on the same page, we have prepared the following pre-reading materials which you may wish to familiarise yourself with before the day. These materials will help prepare you for the topics and exercises that we will be covering during the training.

Additional materials will be available on the day and will be shared on our website, e-learning portal and YouTube channel following the event.

You can find definitions of any terms that appear in purple in our glossary.


Building a rare disease patient registry








Introduction to registries

The following overview is designed to give attendees a basic introduction to registries, what they are, what they are used for, and the different interest groups involved in developing a registry. We encourage you to read through this section and note down any questions you have for the workshop. You can even submit these questions in our comments section below, so we can try and address these areas directly during the training. 


What is a patient registry?

A patient registry is a centralised database that systematically collects information about people who are affected by a particular condition. Registries can collect a wide range of information: at their most basic, they collect patients’ names, ages and contact details, though most registries collect more detailed information, such as diagnostic results, lifestyle, and medical care.

Participating in a registry is not the same as signing up for a clinical trial. It can sometimes be the first step, as researchers may use registries to invite patients to participate in their research projects, but registries and specific trials tend not to be directly linked.

For a more interactive introduction to registries, watch our 2-minute animated video:


What is the difference between a patient registry, product registry, and a natural history study?

Product registries

When a new medicine is approved to treat a health condition, the researchers or pharmaceutical company who ran the clinical trial are responsible for monitoring its long-term effects. This is part of something called ‘pharmacovigilance’ – the practice of monitoring the effects of medical drugs after they have been licensed to identify previously unreported adverse reactions. 

Product registries are set up to collect this information related to pharmacovigilance. They are different to patient registries as they only include people taking the specific medicine and only collect information on its effects. Patient registries, on the other hand, include data from anyone living with the condition whether they use a wide range of medicines or none at all. 

Historically the majority of registries were product registries. More recently, however, there has been a large international movement from product registries to patient registries because of the wealth of data they can collect and the multiple purposes they can be used for. As a result, new patient registries are encouraged to use a system which would allow a pharmaceutical company to integrate pharmacovigilance measures in future. This prevents duplication of information and effort.


Natural history studies 

Natural history studies are often confused with patient registries but the two are distinct. Natural history studies are a type of research study known as an observational study. They follow a distinct cohort of patients for a prolonged period of time to understand how a particular disease progresses through patients’ lives. Patient registries, on the other hand, collect information from the whole patient community on a wide range of aspects for multiple purposes. 

The reason for confusion between the two is that patient registries often incorporate natural history measures. For instance, they might ask patients to regularly provide updates on the symptoms they are experiencing. However, incorporating natural history measures is not always practical or necessary in a registry. 

The lines between the two blur more when it comes to rare diseases. Often there is no clear picture of disease progression so there is more need to incorporate natural history measures into the registry. ‘Registries for evaluating patient outcomes: A user’s guide’ gives the example of lysosomal storage disorders: where patients previously did not survive into their 20s, they may now be living into their 40s and 50s, and this unchartered natural history is first being described through a registry. 


Why are patient registries useful?

Patient registries can be very powerful tools. Generally speaking, they help to build a more complete picture of a disease. This can support the planning of research studies, healthcare services, and your own patient group’s projects. It can also improve understanding of how a disease progress through the average patients’ lifetime. This information is useful for all health conditions but is particularly valuable in rare diseases where there tends to be a shortage of knowledge.

What can patient registries do? 

Specifically, registries can:


  • Aid understanding of disease prevalence and patterns – for instance, you can examine factors affecting quality of life and prognosis, or analyse variations in treatment/care and associated health outcomes.
  • Support clinical research – having a patient registry can make your rare disease more attractive to researchers. Researchers can analyse the data to inform research projects and use the registry to recruit patients into clinical studies. Having a registry can therefore support proposals for research funding. 
  • Improve health and social care planning – if you are working with healthcare professionals to set up a specialist clinic for your rare disease, understanding trends within your community can help you prove the need and decide how it should be run. 
  • Help you plan your own projects – if you are planning a family day, knowing the geography and age distribution of your community can help you decide where it could be held and the activities which could be run. 
  • Help you understand how well medical guidelines are being followed – if your rare condition has medical guidelines (many don’t!), you can examine how patients’ care and treatment differ from the recommendations. This can help you plan improvements to services. 
  • Give patients the opportunity to be counted – generally speaking, patients are keen to contribute to research. Having the chance to participate in a registry can help them realise their experiences matter. 
  • Help patients understand more about their health and how they may differ from the average patient – this is very important to patients and their families, as it helps them plan their lives around their condition.

Who can play a role in registry development?

The main groups of people who can play a role in the development of a patient registry are clinicians, clinical networks and healthcare services; patient groups and charities; and the pharmaceutical industry. These groups tend not to develop registries in isolation; instead, two or more groups may work together to decide the best approach.


What roles can different interest groups play?


  • Clinicians, clinical networks and healthcare services – In the UK, data is usually entered into registries by qualified healthcare professionals, such as NHS employees. In these cases, the registry may be owned by the NHS or it could be owned by another group, such as a patient group, who are collaborating with the NHS to input data. Clinical networks, such as European Reference Networks (ERNs), may also launch and maintain their own registries. 
  • Pharmaceutical industry – Pharmaceutical companies can build patient registries to determine whether a clinical trial in a specific disease is feasible. By understanding the numbers, ages, locations and experiences of patients, they can discuss whether a trial is practical and, if so, how it could best be run. Registries can also help them identify potential clinical endpoints. Alternatively, pharma companies can fund the registries that other groups, such as patient groups, are working on. 
  • Patient groups and charities – Patient groups can play a number of roles in registry development. These include:
    • Shaping external registries – Patient groups are well placed to advise clinicians and the pharmaceutical industry on the best approach to developing their own registries. For instance, they can suggest the data they should collect based on the symptoms they experience. Registries often have steering committees or working groups which patient groups can be part of.
      • Launching and maintaining their own registry – Where there is no existing registry or external interest to start one, patient groups can launch their own.  
      • Communicating the value of participating with patients – Patient groups can inform their community about the existence of a registry and give them the information they need to make an informed decision about participating. If the registry requires patients to input data themselves, such as through a mobile app, patient groups can encourage them to keep it up-to-date.  
      • Funding – Patient groups can wholly or partly fund their own or external registries through fundraising activities.

Close tabs

We’ve prepared this section in a handy document for you to download.

What should you consider before developing a registry? 

Developing a registry is too big an undertaking to be a ‘nice to have’ or ‘just in case’ project.  Before developing a registry of your own, you will need to take a variety of practical and logistical considerations into account. We have outlined a number of these below. You may wish to work through these in relation to your own patient group, as this will help form the basis of one of our workshop activities.  

Questions to ask yourself

  • Does a registry already exist for your condition, or group of related conditions? If yes:
    –    Who owns it?
    –    Are there opportunities for collaboration?
    –    Would there be benefit in creating a duplicate registry for your condition?

  •  What are the advantages and disadvantages of developing your own registry?
  • What would the purpose of your registry be?
    –    What will it answer?
    –    Is its purpose in-line with your  mission and aims?

Logistical considerations

  • What information will you collect?
  • How will you collect and store data?
    –   Will you update information you collect?
  • Who will own the data?
  • What platform will you use to host your registry?
  • How will you fund your registry?
  • Who will participate in your registry – children or adults, UK or global patients, those with genetic mutations or all patients?
  • What connections or collaborations do you need?
  • How will you communicate the value of your registry with your community

Finding existing registries

Registries can take a lot of time and money to set up and maintain. It is therefore worth researching if there are any opportunities for you to collaborate with those who are already running them. There are two types of these opportunities: 

  • Registries that are set up for your specific rare disease
  • Registries that are set up for many conditions, such as a group of similar diseases, that your rare disease could fit into

We recommend coming to the workshop with a good idea of the opportunities that already exist for your rare condition as this will help frame what you learn in the workshop. Try the following sources and see what’s out there.   



The easiest first step you can take is Googling whether there is a registry for your rare condition. You could try the following search terms to find out if there is an existing registry or an umbrella registry your condition could fit into:

  •   “[Your condition] patient registry”
  •   “[Your condition] natural history study”
  •   “[Your type of condition – e.g. Neuromuscular] patient registry”

Registries of registries

You can also try these databases of registries. Please note that these lists can be extensive but are often not complete, as there is no obligation for registry managers to add their registries. Therefore, if you cannot find anything, it is still worth trying other search methods such as Google.



Orphanet has a directory of rare disease patient registries in Europe. To search it:

  1.   Go to Orphanet and click ‘Directory of ongoing research projects, clinical trials, registries and biobanks’.
  2.   In the purple top-left menu, click ‘Registries and biobanks’.
  3.   In the search field, enter your disease name.
  4.   Select your rare disease from the list.
  5.   Browse the existing registries and biobanks.

Orphanet also publishes an annual report on the rare disease registries in each European country, as well as those that are Europe-wide and internationally led out of European countries. Find it here.


National Institute of Health Genetic and Rare Diseases Information Centre (NIH GARD)

The United States’ NIH GARD has a database of rare diseases which includes details of US and international patient registries set up for them. To search it:

  1.   Go to the NIH GARD website and enter your disease name into the search bar.
  2.   Select your rare disease from the list.
  3.   Scroll down to the ‘Research’ section. If a registry is known to NIH GARD, there will be a sub-heading ‘Patient Registry’ with more details. This sub-heading will not appear if no registry is known.

The NIH also has a small, selected list of registries. You can find it here.


European Medicines Agency (EMA) ENCePP Resources Database 

The EMA’s ENCePP is an electronic index of EU research organisations, networks and patient registries involved in pharmacoepidemiology and pharmacovigilance. To search for registries:

  1.   Head to the ENCePP Resources Database landing page and click the blue ‘Search Database’ button.
  2.   Select ‘Data source’ as the type of research.
  3.   Fill in the form. If you want registries that are not set up for a specific purpose, such as pharmacovigilance, select the ‘Type of data source’ as ‘Disease/case registry’ and leave all the other fields blank.
  4.   Click ‘Search’ at the bottom of the form.


Registry of Patient Registries (RoPR): 

In 2012, a research team created RoPR – a registry of patient registries to make them easier to find. The team have been seeking funding to maintain the registry since they lost it in April 2019, so it might be worth keeping an eye on this resource in case they launch again soon.


Examples of umbrella registries

The National Registry of Rare Kidney Diseases (RaDaR):

RaDaR is designed to collect information from patients with rare kidney diseases. Data is added by healthcare professionals but can be accessed by participants through an online system known as ‘Patient View’. A list of the diseases they are currently recruiting for can be found here.



TREAT-MND is a network which hosts and manages registries for a range of rare neuromuscular conditions. Data can be entered by patients themselves, doctors, or a combination of the two. A list of their registries can be found here.


Rare and Undiagnosed Diseases Study (RUDY):

RUDY is a patient registry set up for a selection of diseases which affect bones, joints or blood vessels, though it is expanding to include all rare diseases. It is led by a research team at the University of Oxford and involves a national network of doctors, researchers, patients and families.


The National Congenital Anomaly and Rare Disease Registration Service (NCARDRS):

NCARDRS records information from people with congenital anomalies and rare diseases across England as part of the UK Rare Diseases Strategy. It is headed up by Public Health England and incorporates 7 historical regional congenital anomaly registers. There are 9 regional offices so that participants can contact their nearest one.


European Reference Networks (ERNs):

ERNs are virtual networks of healthcare providers across Europe. They connect specialists across the continent to review a patients’ diagnosis and treatment, allowing knowledge to travel instead of patients. There are currently 24 ERNs set up for different health themes, such as rare bone diseases, neurological diseases and kidney diseases.

Most ERNs are working on setting up registries for the rare conditions that fit into their theme. For instance, ERN-LUNG is setting up a Registry Data Warehouse to bring existing registries and their new registries together will full interoperability. Find out more here.


Close tabs

We’ve prepared this section in a handy document for you to download.

Discussion forum

If you have any questions or topics you would like us to address during the workshop, please note these below.  

1 Comment

  1. Mike Cain

    In an ideal world there would be a data set for the registry for one disease.
    Who could design such?
    If hospitals had data they were prepared to share, they would have some fields filled and some empty. The empty fields would need filling. How could this be done?
    If the database was within the NHS net it would offer security to NHS institutions. What position would academic and other institutions have?
    If the group had ownership, how would the data be shared with other European groups?


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