One of our plans for the George Pantziarka TP53 Trust is to build a central TP53 Registry for the UK. Currently there is no central database to record who has Li Fraumeni Syndrome or other related disorder. This means that nobody knows how many sufferers there are in the country, nobody knows where they are located, whether they have specific needs that are unmet. It means that individuals and families have no way of finding other affected individuals, or any way of sharing information or support. And it also means that researchers cannot easily access a population of individuals to try out new treatments or set up clinical trials. It also means there’s limited data for researchers looking for patterns of gene mutations and how they relate to specific types of cancer or other conditions.
For this reason one of our aims is to create a central registry so that we can collect the data that can be used by medical researchers, support groups and other charities.
Building the database is the easy part, to make it successful we would really need to make sure that it is used by the genetic testing centres in the UK, and that patients can register with the database directly if necessary. To make this happen we’re going to need a core group of people willing to put the work in.
Ideally we would want to use the database for two types of research. The first is on the medical side. Currently if a research group came up with a new treatment there’s no easy way for them to recruit enough patients to form a clinical trial – and without enough patients no trial could take place. Having a central registry would short circuit that process.
Secondly, we could use the database to establish what the needs are of people with Li Fraumeni Syndrome and other related conditions. Are there additional forms of support they need that are currently not being met by existing resources? Just how many people are affected? A registry could be used to answer these types of questions too.
For now though, we need to establish contact with as many people Li Fraumeni Syndrome and other related conditions as possible.