A patient registry is an organised compilation of information on individuals with a specific condition. Think of it as a filing cabinet- it holds all the information available on individuals affected by a condition, in an orderly fashion. This information can be about each patient’s medical history, family history, medications and any changes over time. When we have this information on a collection of patients, we can start to work out patterns of disease, ranges of severity, how problems evolve over time, treatment strategies that have worked or not. This is the start of medical research. Patient registries act to steer scientific research towards what is meaningful for affected individuals, and correlates what we see in the laboratory with what is happening in real life. As such, it is a foundational tool for all good medical research.

Patient registries can benefit people with rare genetic conditions like CLCN4 for three main reasons:

1. Patient registries can improve patient care

When more is known about a condition, more information can be given to newly diagnosed families, more effective treatments can be made available, and more knowledge will exist about how to use these treatments. This is even more important in rare diseases like CLCN4, where no single clinician would have seen enough of cases to be able to accumulate necessary experience. With each family that shares their experience and knowledge, more information will be added to the knowledge bank, improving patient care collectively and also individually as what one family shares may eventually help another. 

2. Registries amplify your voice

Our registry will ask you to give your point of view on important matters about you or your child. For example, asking for your view on which symptoms are most important to find treatments for, or which existing treatments you wish there was better information on. Sharing your point of view is extremely powerful, because it helps research funding agencies, pharmaceutical companies, regulatory agencies and our patient organizations learn how to best meet your needs. Requiring researchers to listen to and serve the interests of the patient is becoming more and more common, and is becoming prerequisite before funding can be won, or drugs can be approved.

3. Registries improve chances of drug development

There is no way around it, drug development is hard, time-consuming and expensive. Drug companies are much more attracted to develop new therapies for rare disorder communities that already have rare disease registries with useful data and families who have opted in to participate in clinical trials. This saves them much time and expense, and allows for greater chances of success with regulatory approval.

All medical research is governed by strict regulatory rules and have to undergo approval by a named ethics board before proceeding. A patient registry is no exception. Your data will be kept secure and your identifiable data (such as name, location, contact details) will NOT be shared with any researchers, pharmaceutical companies or the wider public, unless with your explicit consent for a specified purpose.

Signing up to the patient registry and sharing your information does not mean committing to taking part in clinical trials. There will be a separate process to recruit patients to specific trials when the time comes. When you register to participate in the patient registry, you will be given the chance to opt-in to be contacted when a clinical trial opens to recruitment. You will be counselled on the details of each trial on its own merit, and be given the choice of whether to take part.

Our patient registry is hosted by Simons Searchlight, a research initiative with the mission of advancing research into genetic changes linked to autism and neurodevelopmental delay. Participation involves registering online with Simons Searchlight, submitting a genetics lab report (if you have it), and having a 60-90min-long telephone interview with one of Simons’ genetic counsellors, who will take you through the relevant questions. They will also ask your permission to contact you on a yearly basis to update the information, so that they have a record of how things change over time.

In order to sign up to the CLCN4 patient registry please watch this video walk-through by Simons Searchlight, and when you’re ready to begin, please click here.

If you have any questions about the sign up process you may be able to find answers on Simons Searchlight’s FAQs or alternatively you can contact them directly. 

If you have already signed up to the patient registry and would like to continue helping the CLCN4 community head over to our Get Involved tab to find out about other ways of getting involved including donating, fundraising and raising awareness!