KCNMA1 Channelopathy International Advocacy Foundation

The KCNMA1 Channelopathy International Advocacy Foundation has entered into a collaboration with the Sanford Health system’s “Coordination of Rare Diseases at Sanford” (aka CoRDS) to create a new KCNMA1 patient registry system which will serve as the very first steps towards a systematic collection and analysis of every single person with a KCNMA1 mutation who chooses to participate. And hopefully, everyone will choose to participate! KCIAF has been working on this project for many months and we’re excited it’s ready to “go live”. There is NO COST to the participants, other than your time. Sanford CoRDS is funding and maintaining the registry (thanks Sanford!) and KCIAF volunteers are coordinating other aspects of the registry.

Patients/families will be asked to provide detailed information on their mutation type, symptoms, tests, development, etc. Identifying information will be stripped out, and then collected into a database which can then studied to look for trends, patterns, treatment effects, etc. This is the first/only existing attempt to collect information at this level of detail on ALL KCNMA1 patients, regardless of mutation type or severity of symptoms.

How it works

The first step is to download and print this pdf (also available in French), which has all of the questions we are currently asking at this time. As you can see, the questions can be quite detailed and will likely require gathering past records and perhaps also involving your doctors’ help in answering some of the questions. Please feel free to take the form with you to your next provider visit, or enlist your doctors’ help in answering any of the questions you aren’t sure how to answer. The form might take of you several hours to complete, or perhaps as little as 30 minutes depending on the situation. Note that, at this time, the study is limited to those who have a confirmed mutation in the KCNMA1 gene.

When you feel you have what you need to answer as many of the questions on the paper form as possible, you are then ready to enter that same information into the database via an online system. Note that it is strongly suggested you do this from a desktop computer or other computer with a large screen (e.g. not a phone), as the online site just doesn’t work well on such screens. The questions online are identical to the paper form. You will simply use the paper form as a guide as you go through the online questions. To start the online process, go to the Sanford CoRDS Registry site, and select “Enroll”. On the first page there is a section for “Diagnosis”. If you start typing “KCNMA1” you’ll see “KCNMA1 Channelopathy” pop-up as an option. Select this and then hit the arrow to the right to enter the diagnosis and then simply keep going. You don’t have to enter all the data in one sitting, you can save it and come back to it, because you’ll be given a login and password to return through the “participant portal”. Note that Sanford CoRDS can accept the paper forms via mail in some cases, and can enter the data for you if you don’t have access to a computer. But online entry is preferred, especially since we expect to update/expand the questions periodically as we gain more insights into KCNMA1 disorders, and you’ll only need to answer the new questions the next time around.

You don’t have to do this alone

It’s quite likely you will have questions or need clarification. In addition to getting your personal physicians to help, we’re also here to help! Just get in touch with us via email or the forums and we can walk you through any issues you might have regarding how to answer the questions.

We’ll need your help too!

A study like this works best if there is lots of data to guide us. Our ambitious goal is to enroll every current (and future!) person that has a KCNMA1 mutation. We know people are very busy taking care of themselves of caring for others with KCNMA1 conditions. Hopefully we can all help each other identify KNCMA1 families, promote/advertise the registry, and (if needed) help each other collect/gather data and fill out out the paper form.