The SCN8A Registry Research Study was first launched in 2015. It provides critical information in several ways:
1. To define the full spectrum of SCN8A epilepsy and related disorders. The impact of SCN8A on our children varies widely with some being seizure-free and able to function at grade levels, while others never achieving seizure control and suffer various degrees of developmental delay and comorbid features. Some children have inherited SCN8A variants while most have a de novo mutation. The efficacy of different medications varies considerably—the SCN8A Registry Research study has already identified specific examples of medications that are beneficial to some children and harmful to others.
2. To describe the course of development from birth to adulthood through the collection of “longitudinal” data. This helps us understand how changes in seizure control are gained or lost over time and the factors associated with these changes. Seizure freedom is an important milestone in the progress of our children, and when it is achieved we notice improvements in quality of life. Continued updates on how your children are doing each year help us further understand the way this disease changes from birth to adulthood, and to identify factors that may lead to or be associated with seizure freedom.
3. To perform analyses of the entered data to look for significant correlations between SCN8A genetic variants and the spectrum of symptoms in our population, as well as for associations among different symptomatic features that may help to predict severity and outcome. For example, we have published on the association between age at seizure onset and the acquisition of developmental skills. This study was published in the highly cited journal, Epilepsia (Study
4. To discover and make available important findings deriving from analysis of the data to help doctors, researchers, and pharmaceutical companies find better treatments for this devastating disorder.
In sum, through the collection of data that you submit in your questionnaire, which is tailored to the needs of the SCN8A community, this research study endeavors to provide a complete description of the various manifestations of SCN8A and the clinical progression of the disease over time. The achievement of these goals is made possible by the inclusion of data from every person with SCN8A, each with a unique history and individual response to treatment. Together we will be able to find answers.
A note to previous participants
If you have previously participated by submitting a Registry Questionnaire we would like to ask that you return to REDCap to answer one short question to ask for permission to enter your name in a raffle. Also, please let us know by contacting us at firstname.lastname@example.org if you would like us to email a copy of your last questionnaire in the form of a PDF. This will allow you to more easily enter previous information about your child—and at the same time to update any changes that have occurred in your child’s medical or developmental history since the last time you filled out the questionnaire.
The reason that we are asking you to participate again is that we want to collect “longitudinal data” to capture changes in your child’s development over the course of time. This will allow us to better understand the natural course of the disease and continue to provide critical information to clinicians, researchers and industry partners that are developing new drugs.
To learn more about the importance of Rare Disease Registries, Click Here
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