Why are patient registries important?

How many people have BHD? Who will develop which symptoms, when?  How severe will they be?

These are very straightforward questions, but there is not sufficient information to accurately answer them at the moment. This is where patient registries are so powerful, particularly for rare diseases.

A patient registry simply stores an individual’s personal information and their medical history, and registries are usually disease-specific. This allows researchers to more accurately estimate both the prevalence and incidence of the disease, and to determine their natural history, providing answers to the above questions. Once this information is known, it can be used to give more accurate advice to patients, and to improve care pathways, which can lead to improved care and life expectancy, even in the absence of a cure.

Registries can be used prospectively to quickly identify patients eligible for a clinical trial, or retrospectively to analyse the effectiveness of an intervention. For example, retrospective analysis of the California Cancer Registry showed that while overall incidence of colorectal cancer declined between 1988 and 2007, incidence increased in Korean communities (Giddings et al., 2012). This correlated with data showing that this group were less likely to attend screening, enabling California’s Comprehensive Cancer Control Program to develop educational programmes specifically for Korean communities about the importance of colorectal cancer prevention and screening.

International co-operation is vital to get a sufficient amount of information in order for rare disease patient registries to realise their full potential. However, although there are currently roughly 640 rare disease registries in Europe, the minority are pan-European or global (Aymé and Rodwell, 2014).

On 21st March, the Cancer in our Genes International Patient Databank (CGIP) patient registry for Birt-Hogg-Dubé Syndrome (BHD), Von Hippel Lindau Syndrome (VHL), Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) and Succinate Dehydrogenase (SDH) patients was launched. The registry is an initiative of the VHL Alliance, and has been part funded by the Myrovlytis Trust, the parent charity of the BHD Foundation.

The CGIP records information on patients’ specific mutation, symptoms, previous treatments, ethnicity, lifestyle and mental health. By recording such a wide range of information, the registry will provide insight on the epidemiology or any genotype-phenotype correlations in these diseases; whether certain treatments have better outcomes; how lifestyle affects disease progression; and how mental health is affected. Of particular interest for BHD patients and researchers, if enough BHD patients take part, the registry may shed light on whether colonic polyps or parotid tumours are symptoms of BHD.

The information collected in this registry will help researchers and clinicians better characterise BHD, VHL, HLRCC and SDHB, and will enable them to give more complete advice and optimised care to patients.

The CGIP Databank is maintained on a secure server, and the VHLA will only allow authorised third parties – namely researchers and clinicians – access to an anonymised dataset. This is standard practise to ensure the privacy of registrants.

If you have BHD, VHL, HLRCC or SDHB, and would like to find out more information, please click on one of the following links, or on the green button below:



  • Aymé S, & Rodwell C (2014). The European Union Committee of Experts on Rare Diseases: three productive years at the service of the rare disease community. Orphanet journal of rare diseases, 9 (1) PMID: 24580800
  • Giddings BH, Kwong SL, Parikh-Patel A, Bates JH, & Snipes KP (2012). Going against the tide: increasing incidence of colorectal cancer among Koreans, Filipinos, and South Asians in California, 1988-2007. Cancer causes & control : CCC, 23 (5), 691-702 PMID: 22460700

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