Patient Registries 2017-06-17T01:28:50+00:00

PATIENT REGISTRIES

dsf-butterfly-purple_jpeg_version_transparent-e1425063447687DSF has recently started a DSF Family Network for parents (US only) that also includes regional support groups and Ambassadors. The purpose of these groups will be to share local updates regarding doctors and therapy options, events & fundraisers and to be able to share knowledge about the resources available in your state. DSF is also planning to host an annual “Day for Dravet” in each region with educational seminars and meetups for families. DSF’s Dravet Family Network is also a communication tool that will provide you with the most up-to-date information about research projects and clinical trials that are available for participation.

Click here to join the DSF Family Network & Support Groups

iicepr

University of Michigan Department of Neurology & Nicklaus Children’s Hospital Brain Institute

Principal Investigators: Jack M. Parent, MD & Ian Miller, MD
Funded by DSF & ICE Epilepsy Alliance

IICEPR is the only clinical registry for ion channel epilepsy patients where medical information and genetic test results are collected and stored in a standardized and secure way by medical professionals. This tool is available to all researchers for use in research & clinical studies. Participants will be contacted directly by IICEPR should they qualify to participate in a clinical study

Click here to join the IICEPR

Rare Epilepsy Network (REN) Registry

The Rare Epilepsy Network, or REN for short, is a collaboration between the Epilepsy Foundation, the IFCR, RTI international, Columbia University, Dravet Syndrome Foundation and many different organizations that represent patients with a rare syndrome or disorder that is associated with epilepsy or seizures. 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.

Enroll in REN Registry

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 example, Dravet syndrome is also known as Severe Myoclonic Epilepsy of Infancy. 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”. DSF is hoping to recruit at least 250 people with Dravet syndrome into the REN.

What Do I Need to Do to Participate?

Enrollment is easy! There are 3 steps to enrolling in the REN Registry:

  1. 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.
  2. 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.
  3. You will need to complete an enrollment survey which asks questions about the affected person with Dravet 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.

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. The survey can be completed all at once or in sections.

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

SUDEP Registries and Tissue Donation

When a patient with Dravet syndrome passes away from Sudden Unexplained Death in Epilepsy (SUDEP), their experience can help researchers learn more about this poorly understood tragedy. DSF encourages families to reach out to either of these SUDEP registries, which collect patient information and, when possible, tissue samples for research into the mechanisms of SUDEP and potential prevention measures. DSF applauds the AAN’s new SUDEP guidelines, while joining other advocacy organizations in urging expanded surveillance, research, and education.

Dr. Alica Goldman and her colleagues at The Department of Neurology at Baylor College of Medicine have established a seizure disorder tissue bank, the SUDEP Tissue Donation Program (STOP SUDEP). This project is funded by The National Institutes of Health (NIH)/The National Institute for Neurological Disorders and Strokes (NINDS). Investigators collect blood and/or tissue samples from individuals who have passed away as a result of a seizure disorder.

Learn more about this program here.

Below are links to brief videos that help explain the tissue donation process:

Tissue donation is a very special gift, but is one about which you may have more questions. We seek to answer some of those questions with this FAQ:

STOP SUDEP Frequently Asked Questions

To register for tissue donation, contact Dr. Alica Goldman

The North American SUDEP Registry (NASR) seeks to help identify risk factors and mechanisms leading to sudden unexpected death in people with epilepsy (SUDEP). The registry collects DNA, brain tissue, and clinical data (e.g., medical records, EEG) for scientific studies about the causes of SUDEP. NASR collects information on cases of SUDEP regardless of how long ago the registrant may have passed away. Even though NASR may not be able to collect brain or DNA samples for older cases, tissue from older surgeries, MRIs, EEGs, and other clinical information have proven incredibly useful.

NASR is a highly collaborative organization with representation from many lay organizations (Epilepsy Foundation, CURE, Danny Did, Dravet EU, etc.) and more than 15 international academic institutions. NASR is the largest and most collaborative SUDEP registries with more than 3 full-time employees and a detailed methodology for SUDEP determination and adjudication by several epileptologists. NASR has enrolled more than 250 SUDEP cases and has brain and/or biospecimens from more than 120 SUDEP cases. A guiding principle of NASR is that clinical data and biospecimens will be shared with scientific colleagues. Learn more about this program here.

NASR has a research study on Dravet Syndrome SUDEP cases which includes a collaboration with DSF and Dravet Europe, as well as clinician scientists in Canada (Dr. Elizabeth Donner), Australia (Dr. Ingrid Scheffer), and England (Dr. Sanjay Sisodiya) and multiple US sites. The goal is to create the largest dataset on clinical, genetic and biospecimens from Dravet SUDEPs to advance our understanding and help to prevent SUDEP.

For immediate response regarding NASR tissue donations please call the toll-free number , available 24hrs/7days. For any other questions, comments or suggestions regarding NASR or SUDEP, or to schedule a telephone interview, please email the study coordinators at info@sudep-registry.org. Third parties are welcome to contact NASR with families’ information for referral, but any emails must explicitly state that the family member is aware of NASR and consents to have his/her contact information forwarded to NASR.

The principal investigator for NASR is Dr. Orrin Devinsky, director of the NYU Comprehensive Epilepsy Center. Dr. Devinsky is a leader in SUDEP research and cares for numerous Dravet patients. He can be reached at or via email at od4@nyu.edu.

NASR Frequently Asked Questions