The Rare Epilepsy Network (REN) is a partnership between rare epilepsy organizations, the Epilepsy Foundation, Columbia University, and Research Triangle International to conduct research to improve outcomes of rare conditions associated with epilepsy and seizures. https://www.rareepilepsynetwork.org/post/get-to-know-dup15q-alliance
The REN is committed to addressing the urgent health challenges of our rare epilepsy community by engaging patients and caregivers, making data available to researchers, and investigating causes and consequences in order to improve diagnosis, treatment, and find cures.
Goal: To unlock the causes of rare epilepsies, Improve diagnosis (avoiding delays and misdiagnosis), treatment and quality of life, and find cures.
The Rare Epilepsy Network (REN) Registry is open for enrollment at http://REN.rti.org.
The REN will establish a registry of these patients which includes patient or caregiver-reported data in order to conduct patient-centered research. This research will be in the form of natural history studies and completion of surveys. The registry will also create the infrastructure for future research such as clinical trials. All of the research will be patient-centered, which means it will address research questions and topics that are important to the patients and caregivers with the ultimate goal of having patients and caregivers better able to participate in healthcare decisions. You may stop participating in the research at any time.
What do we mean by “Rare Epilepsy”?
In the world of neurology, “rare epilepsy” is a disorder or syndrome that is defined by a particular type of seizure. For the purposes of the Rare Epilepsy Network, we are including in the definition of rare epilepsy any disorder that is rare and that is also associated with seizures or epilepsy in the majority of patients. We are also using the term epilepsy to mean the same thing as having seizures or a history of seizures.
Who is eligible for the registry?
Patients who are eligible for the REN Registry must have a diagnosis by a physician of one of the following conditions:
- CDKL5 Disorder
- Aicardi Syndrome
- Tuberous Sclerosis Complex
- Dravet Syndrome (SMEI)
- Dup15q Syndrome
- Hypothalamic Hamartoma
- Lennox-Gastaut Syndrome
- Ohtahara Syndrome
- PCDH19 Female Epilepsy
- Phelan-McDermid Syndrome
Eligible patients must also have had at least one seizure in their lifetime that was not caused by a fever or the direct result of a head injury. We call these types of seizures “unprovoked”.
What do I need to do to participate?
Enrollment is easy! There are 3 steps to enrolling in the REN Registry.
- You will need to read a consent form and acknowledge that you understand what it says and you would like to participate. If you have any questions, you may send us an email or call us before you agree to participate.
- You will need to enter in your contact information and some information about the affected person which allows us to create a global unique identifier and to be able to contact you in the future about the Registry.
- You will need to complete an enrollment survey which asks questions about the affected person with Dup15q Syndrome which asks about their diagnosis, seizures, treatment, development and medical history. There is also a section that asks about your quality of life and the impact that epilepsy has had on your family. The more information you provide in completing the questions, the more valuable your data will be for research. If you have a list of seizure drugs that were EVER taken, this may help you in completing the section about treatment.
The survey can be completed all at once or in sections.
How much time will it take to participate?
Reading and signing the consent and filling out your contact information will take about 5-10 minutes. The entire enrollment survey will take about 45 minutes to complete but does not have to be completed all at once. It is divided up into sections. A few times a year we will send you an email asking you to complete a follow-up survey.
How can I learn more and enroll in the registry?
You may learn more about the Registry and enroll by logging on to the study website at http://ren.rti.org Enrollment is now open.