Participate in Research & be a Part of the Solution
One obstacle in developing drugs and new treatments for rare diseases is a lack of patient data. Only 5% of rare diseases have FDA-approved therapies, and we want CACNA1A-related disorders to be one of them! But without valid and reliable data, that won't happen.
The CACNA1A Foundation has developed a comprehensive Natural History Study in collaboration with Dr. Wendy Chung and her team at Boston Children’s Hospital to understand CACNA1A-related disorders. We also participate in two other data collection programs, RARE-X and Citizen Health. What type of data are we collecting? Developmental, behavioral, and medical symptoms with which the individual with a CACNA1A variant presents, medications and outcomes, and EEG and MRI reports. And, of course, the variant or genetic change in the CACNA1A gene. By contributing your data to these studies, you are helping us build the best scientific tools that researchers, clinicians, and biotech partners can use as we progress toward finding a cure. Engaging in research studies is a crucial means of expanding our understanding of CACNA1A-related disorders and expediting the development of future treatments and therapies.
Click on the links below to learn more and participate!
STEP 1:
Join the CACNA1A Foundation’s contact registry so we know who you are
Time: 10 minutes to complete. Please do not skip any questions. Our data is only as good as the info you provide. Make sure you check the genetic test report for the CACNA1A variant (mutation) before starting.
STEP 2:
CACNA1A Natural History Study by the Chung Lab at Boston Children’s Hospital
Time: 1-4 hours, depending on the amount of data you have. It's our most comprehensive study, so please make time for it. You must have a genetic test report confirming the CACNA1A variant. You will be asked to upload the genetic test report, EEGs, MRIs, etc. Updated annually.
STEP 3:
CACNA1A + RARE-X Data Collection Program
Time: Initially 20 minutes. Each survey provides an estimated completion time. You can log in to your dashboard at any time to fill out the surveys. You will need a copy of the genetic report to get started.
STEP 4:
Citizen Health Digital Platform
Time:10-15 mins to sign up. Update each time you visit a new doctor or have a medical procedure.
STEP 5:
Interested in donating biosamples to the CACNA1A Foundation biorepository?
We are doing targeted outreach to obtain blood samples for specific mutations, as requested by our Research Network.
STEP 6:
Quality of Life Questionnaire
Time: 10 minutes to complete. Please ensure you have the variant information from the genetic test report.
STEP 7:
Questions? Please email us! We are here to help!
Below is a list of additional research projects currently recruiting new participants.
COMBINEDBrain Biomarker* Project
The CACNA1A Foundation is a member of COMBINEDBrain, a nonprofit consortium of over 60 patient advocacy organizations representing rare, genetic neurodevelopmental disorders. In 2023, COMBINEDBrain set out on a mission to collect ~500 bio-fluid samples (blood and urine) from their member organizations. These samples have been stored and are currently available to researchers across the world who are studying biomarkers and other related projects.
COMBINEDBrain held collection sites at partner conferences across the United States throughout 2023.
While this large-scale open call is over, if you are interested in submitting a biofluid specimen (blood/urine), please email us at biobanking@cacna1a.org for more information. Thank you for supporting this project.
*Biomarkers, which are something that can be measured objectively (blood, body fluids, EEG patterns, heart rate, etc.), can help diagnose a disorder, determine the progression of disease, and measure treatment effectiveness.
The Epilepsy Genetics Program at Boston Children’s Hospital Study
The Epilepsy Genetics Program at Boston Children’s Hospital looks to identify and better understand genetic factors related to epilepsy. We are conducting a collaborative, observational research study to better understand the clinical presentation associated with CACNA1A variants, looking specifically at its involvement in various epilepsy syndromes.
For more information: please contact our research assistant, Julia Koh, at PoduriLab@childrens.harvard.edu or 617-355-5254.
National Brain-Gene Registry
The National Brain Gene Registry is a highly collaborative initiative that aims to better understand the impact of rare gene variants in intellectual and developmental disabilities, with the vision of improving the lives of individuals and families touched by these conditions. Investigators at Baylor College of Medicine and Texas Children’s Hospital are recruiting patients who have had genetic testing, and whose results show a change in any one of 65 genes including CACNA1A that are thought to affect some aspect of brain development or function. They are looking for patients who have documented changes in specific genes (referred to in clinical genetic test results as either “pathogenic,” “likely pathogenic,” or “variants of unknown significance”) to enroll in a national registry to advance knowledge on the relationship between genetic changes and human disease. Participants will complete questionnaires, participate in a virtual (video-conference) visit, and share certain parts of their electronic health record with the study team to help them learn more about how these genetic changes affect brain development. There is no age limit to participate.
For more information: please visit - https://braingeneregistry.wustl.edu/ or contact Ryan German, Research Coordinator in the Department of Molecular and Human Genetics at Baylor College of Medicine at ryan.german@bcm.edu or 832-824-8632
Share your research
If you are a researcher studying CACNA1A and would like your study added to our list, please contact us at: info@cacna1a.org