Consider joining a patient registry

What is a patient registry?

A patient registry is a database containing clinical information, systematically collected, about people who share a condition. For rare diseases, it is an essential tool to increase knowledge and understanding of the condition.  Data in the registry can be used to map a condition’s natural history (how it progresses) and answer epidemiological questions such as who and how many people have it. This kind of data is required to draw up national and international health policy and care guidelines, and can be used to convince pharmaceutical companies to invest in the condition.

Registries are also used to find people who might want to take part in clinical trials and to collect data on how people respond to treatments. In some registries, patients can get involved in the development, management and maintenance of the database.

According to a report by the national organisations for rare diseases in North America and Europe (CORD, NORD and EURORDIS):

  • Where well-implemented registries and active patient organisations exist, the likelihood for developing a treatment for the disease in question is increased. Furthermore, the consistent longitudinal collection of patient data facilitates the creation of standards of care and dramatically improves patient outcomes and life expectancy even in the absence of new therapies

In short, by signing up to a registry, you can directly contribute to accelerating progress towards a targeted treatment and improved outcomes for people with PHTS.

Before consenting to join a patient registry you will have the opportunity to discuss any questions or concerns you may have with a doctor. You are free to withdraw your consent at any time and this will not influence your future medical care.


What happens when I sign up?

When you sign up to a patient registry, you or your doctor may provide information such as your medical history, diagnosis, symptoms and any treatment that you have had. In return, you are typically kept informed of developments relating to your condition. In particular, you could:

  • Receive news about new and ongoing studies
  • Receive information about your condition
  • Have the opportunity to share information about yourself with researchers, other patients and patient advocacy groups
  • Have the chance to be contacted directly by researchers to join studies in a clinic or online

Your medical data, your privacy

As well as patient advocacy organisations, registries can be hosted by academic institutions or by pharmaceutical and biotech companies. Before signing up to one, you should read the registry’s privacy policy and ensure that you are happy with how your medical data will be used, who will be able to access it and what type of consent you need to provide for this to happen. For example, because so few people have PHTS, registries based in one country may pool information with registries in other countries to increase the chance that meaningful conclusions can be drawn from the data.

To protect people’s privacy, information in the registry might be anonymised - any information that could identify an individual is removed. But because this can cause problems when data is pooled or cross-referenced with other sources of epidemiological information, pseudonymisation is sometimes preferred. In this case, a trusted third party replaces any identifying data with artificial placeholders or pseudonyms. Only they have access to the information needed to ‘decode’ the pseudonymised data and reconnect a patient’s medical information to their identity.

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However, even if the database is anonymised, it may still be possible to identify who the data comes from, by cross-checking medical history against other sources of accessible personal data, for example. This is especially the case where there are relatively few people with a condition.  

Ultimately, the decision of whether to sign up to a registry is a personal one. You have to decide how concerned you are about the potential privacy issues or whether you think they are outweighed by the benefits of an increased understanding of PHTS.

Where can I find a PHTS registry?

Currently, a number of institutional and national PHTS registries exist, or are planned that people with PHTS can sign up to.

These include:

  • PTEN Hamartoma Tumour Syndrome Foundation Patient Powered Registry
  • Cleveland Clinic Registry

If you know of any other registries that you would like to have mentioned on our website please contact us.

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