Many of you may have heard or read about KCIAF’s KCNMA1 Subject Registry, and thank you to those who have already participated. Have you wanted to participate but were unsure how to start? Or perhaps you started, and were unsure how to continue? We are very excited to announce that there is now a dedicated person to help to get you and your family through the survey. You’ll have one-on-one guidance via phone or video, from start to finish, so that you easily and efficiently make a critical contribution to KCNMA1 research. Keep reading for details!
The goal of this ongoing project is to collect information about as many people with KCNMA1 mutations as possible, in one place. This is necessary to expand what we know about the similarities and differences in this diverse group of people. This is also a critical first step before any clinical research can occur, which hopefully one day may lead to treatments for the wide range of mutations and symptoms seen in KCNMA1-Linked Channelopathy.
Dr. Andrea Meredith and Dr. Sotirios Keros have made this survey initiative a key part of the KCIAF mission.
The basic process for joining the registry is simple: You provide the registry with your information via a simple “checkbox” or fill-in-the-blank questionnaire, either through an online system or by completing a paper form. However, we realize that the details can be confusing, and many aren’t sure how to answer the questions or are worried about entering things incorrectly. We know many people want to participate but simply don’t have time. Others might have started the process but got “stuck” and didn’t finish. Many people are not native English speakers, which makes things even more confusing.
What are we offering and how do you start? Browse through this questionnaire/survey, so that you get an idea of the information we’re collecting. A version in French is available here. Clearly there are a lot of questions here, and you might not even know what some of them are asking. That’s okay, that’s what we’re here for! Jacob Miller is a medical student at the University of Maryland School of Medicine who is working in Dr. Meredith’s laboratory this summer. He is available now to walk you through the survey line-by-line and answer any questions you may have. If you are registering for the first time, or if you registered before but had to leave many questions unanswered, he is a great resource to help get your information into the database. You can set up a phone or video meeting with Jacob, by using the contact us form on the KCIAF website. He will begin working with patients and families on June 1st! Jacob will also be consulting with Dr. Keros, who is available when needed to provide additional guidance to help get complete and accurate information.
You can start now to gather any medical records you might have available, as well as perhaps the names and contact information for your neurologists and other professionals who help you. The information that can be the most helpful includes: genetics testing results; EEG reports; brain imaging reports such as MRIs or CT scans; any recent notes or reports from visits with your neurologist or main doctors. In some cases, we may even be able to help you get the necessary documents from your doctors. And you should also feel free to bring the survey form with you to your next doctor’s visit to get their expert help as well! Although it would be helpful to have as much information as possible, you do not have to have everything prior to working with Jacob, and the survey does not need to be completed with him in one sitting.
For those hearing about the registry for the first time, it is a database run by the Sanford Health System’s Coordination of Rare Diseases at Sanford (CoRDS) in partnership with KCIAF to collect information about people with KCNMA1 mutations. The registry is an opportunity to submit information about your symptoms and medical diagnoses so that researchers can study treatment effects, symptom patterns, and so much more. Here is a great “Frequently Asked Questions” page. The very first step to officially register is to fill out this 5 question screening form. You can do that at any time and do not need to wait on us. After that, CoRDS will contact you via email or mail with what to do next. But basically, when you have finished completing the survey on paper with our help, you can either simply mail or email that survey to CoRDS who will then enter the data for you, or you can enter the data yourself directly.
It is important to know that once you enter your data into the CoRDS registry, your personal information will never be given out without your permission. Researchers who use the information will not get your names, addresses or other information which directly identifies you. This is called “de-identifying”. Also keep in mind that CoRDS is in charge of things like recruiting participants, enrollment, obtaining consent, etc. Our mission is to help spread the word and also volunteer to help anyone and everyone complete the process with as little stress and effort as possible.
The entire process is free, aside from your time. We hope that every person with a KCNMA1 mutation particiaptes, so that everyone is equally represented in the research literature and we understand the full scope of patient symptoms. There is strength in numbers!
We look forward to hearing from you and working together to learn more about KNCMA1-linked channelopathy!