HOW CAN I FIND OUT MORE ABOUT KCNMA1-LINKED CHANNELOPATHY FOR PATIENTS AND FAMILIES? 

Please visit the KCNMA1 Channelopathy International Advocacy Foundation (KCIAF) to learn more about the disorder.

ARE THERE ADDITIONAL RARE DISEASE ORGANIZATIONS WITH RESOURCES TO HELP PATIENTS AND FAMILIES? 

KCIAF has partnered with Global Genes to increase the community resources for patients. Global Genes RARE Concierge is a service where you can reach out with your unique rare disease-related questions and get information relevant to your needs. Patient Services Guides understand what it is like to navigate the complex world of rare diseases and are here to help. This service is free.

Other organizations that can help are the National Organization for Rare Disorders (NORD), Rare Epilepsy Network (REN) and the Dystonia Foundation (DMRF).

WHAT IS THE KCNMA1 PATIENT SURVEY, AND WHY SHOULD I PARTICIPATE? 

One of the major education and advocacy goals of KCIAF is to compile a comprehensive neurological definition for the KCNMA1 disorder.  To that end, we developed a questionnaire that asks patients with confirmed KCNMA1 gene findings: 1) the identity of the KCNMA1 variant on the genetics report, 2) the symptoms experienced, and 3) the treatments that have been tried.  Here is the survey questionnaire.

HOW WILL MY PRIVACY BE PROTECTED? 

The genotype and phenotype information collected in the survey is HIPPA-compliant.  The responses will be ‘de-identified,’ which means all personal information will be stripped out of the records.  The responses are combined with other survey respondents, and the results are stored together anonymously.    

HOW WILL MY DATA BE USED FOR RESEARCH AND PRECISION MEDICINE?

The survey results will be used for research.  The questions that researchers would like to answer are:  

• How rare is KCNMA1-linked channelopathy disorder?  How many individuals have KCNMA1 variants?  Is every KCNMA1 variant associated with symptoms, or are some benign?  Are there families that pass the variant onto the next generation, or do most variants arise within a single individual within a family?  
• What are the major diagnoses associated with KCNMA1 gene findings?  How severe are the symptoms?  
• Which KCNMA1 variants are associated with particular symptoms (genotype-phenotype correlation)?  Are there other comorbidities or risk factors that amplify the symptoms experienced?  Is KCNMA1 the only gene involved, or are there typically other gene variants found on the genetic testing?  
• Which drug treatments have patients tried?  Which ones are the most (or least) successful?  Does the treatment efficacy vary by the specific type of variant? 
• Which occupational therapies and educational accommodations have been helpful?  Which types of adaptive supports are needed?
• The KCIAF survey is designed to convince companies to develop Precision Medicine therapies for this disorder.  Pharmaceutical companies want to understand what this disorder is, how many patients there are, and what the potential drug targets could be.  In order to convince them to work on potential KCNMA1 channelopathy treatments, we need to show them data representing the whole patient population.  We need every individual with a KCNMA1 variant to participate!

INSTRUCTIONS FOR COMPLETING AND SUBMITTING THE KCIAF SURVEY 

1. Verify that a KCNMA1 gene finding has been identified on the genetics report.
2. Scan a PDF copy of the genetics report with Adobe Scan (or take an image with your cell phone).
3. Look over the survey questionnaire (download here).  Write out write out the answers to the questions in advance.  
   • You will need notes or medical records that document the diagnoses the patient has received, as well as the names of the medications taken for each symptom (including dose and duration).  If you have this information organized, it could take less than 30 minutes to answer the questions.
   • You may need to ask your neurologist for help answering certain questions.  This is ok!  They can often help you understand why the question is being asked and how to give the clearest answer.  You could even take it into an appointment and get help on the spot (notify them, or email them a copy, before the appointment).  Some physicians will also assist outside of your appointment by email.  Ask if you can email them the mostly-complete survey and identify which questions you need help with.
4. Register for an account on the Sanford Health System ‘Coordination of Rare Diseases at Sanford’ (CoRDS) and fill out the consent forms.
   • 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’. Start typing ‘KCNMA1,’ and ‘KCNMA1 Channelopathy’ will pop-up. Select this option, and then hit the arrow to the right to enter the this diagnosis and complete the consent process.  You are giving your permission for CoRDs to collect and store your data (anonymously) by signing the consent. CoRDS has a FAQ page which will answer additional questions about how a rare disease registry works and what it will be used for.
   • You will get a login and password for the CoRDS Participant Portal.
   • Start answering the questions from your printout. Answer as many questions, with as much detail, as you can.  You don’t have to enter all the data in one sitting.  You can save your responses and come back to the Participant Portal later.
   • Start answering the questions from your printout. Answer as many questions, with as much detail, as you can.  You don’t have to enter all the data in one sitting.  You can save your responses and come back to the Participant Portal later.

OTHER FACTS ABOUT THE SURVEY 

• There is no cost to participate.
• No one involved in the survey design (KCIAF), or administration (CoRDS), receives any financial compensation to get people to participate.  Both KCIAF and CoRDS are non-profit organizations.
• Contact KCIAF if you need the survey translated into a different language.  We have a French translation and can make other languages, but it will take some time. 
• CoRDS may email you when updates to the survey are available.  You can fill it out again at that time (some of the questions will have been updated).
• Please answer the survey questions using a computer if you can.  It doesn’t work as well on a phone (but you can always try!  Maybe you will be lucky!).  If you need technical help or are unable to complete the questionnaire online, contact the CoRDS help desk directly.  CoRDS can accept the paper forms (either email or via mail) in some cases.

A BIG THANK YOU:  EVERY PATIENT WILL HELP US UNDERSTAND THE DISORDER!

A study like this works best when there is a large amount of data. KCIAF’s ultimate goal is to enroll every individual that has a KCNMA1 variant confirmed by genetic testing. Help KCIAF advertise the survey by linking to it on your support pages.