PATIENT RESOURCES & REGISTRIES

dsf-butterfly-purple_jpeg_version_transparent-e1425063447687DSF’s Dravet Family Network is 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. Families will also be notified if there is a new family near them who wants to connect with the community or if there are fundraising or awareness events near them. Patients and their families enrolled in this network will receive periodic updates. Your information will not be shared without your permission; the network is simply a tool for communication within the Dravet community.

Click here to join the DSF Family Network
DSF Facebook Parent & Caregiver Support Group

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.

To join the IICEPR, click here Participants will be contacted directly by IICEPR should they qualify to participate in a clinical study

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.

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:

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 855-432-8555, 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 646-558-0803 or via email at od4@nyu.edu.

NASR Frequently Asked Questions

The following list contains links to third party web sites. Dravet Syndrome Foundation is not responsible for the content or privacy policies of these external sites. While we try to only list sites here that we feel contain useful information for our families, a listing here should not be construed as an endorsement for any products or services they may provide. If you have a suggestion for a resource, please email us

A special thanks to Michelle Welborn, Pharm D, for providing the following information.

MWelborn Group, LLC Pharmaceutical Consulting

Intractable Childhood Epilepsy (ICE) Alliance

 

Stiripentol is not an FDA approved drug. For the last several years, US citizens have been able to obtain stiripentol by ordering directly from Biocodex, France OR by ordering through Caligor Pharmacy, NY via the FDA’s Personal Importation Policy (PIP)

FDA’s PIP is discretionary, meaning the FDA has the right to control the importation of a non-approved drug for personal use. This policy is meant to help people with life threatening illnesses obtain drugs when FDA approved drugs have failed. The FDA does not consider the PIP a “license” to import drugs for personal use (even for people with life threatening illnesses). However, the FDA will allow importation of investigational drugs for life threatening conditions if the criteria in the import policy are met in most cases.

There are now many patients with Dravet Syndrome on stiripentol in the United States, and the drug remains unapproved (investigational). Because stiripentol has been imported for most patients through the PIP, the FDA does not know exactly how many US citizens are on the drug and also does not have safety data on the use of an unapproved product in a fairly large group of patients. The FDA preferred way of obtaining a drug for investigational use is by the FDA Expanded Access IND process. The IND Expanded Access program allows physicians to request permission from the FDA to use an investigational drug in a patient with a severe or life threatening condition in which FDA-approved drugs have failed. Safety data is collected at regular intervals on all patients receiving an investigational drug via and IND and the FDA is alerted to any serious or life threatening adverse events. Also, the FDA is able to ascertain how many US citizens are using an investigational drug at any given time. The FDA’s ultimate goal for investigational drugs for life-threatening conditions is for the sponsor of the drug to submit the necessary data for FDA approval so the drug will be available to all patients with the disease. When growing numbers of patients with a rare disease such as Dravet Syndrome use an investigational drug for treatment, there is concern that once the clinical studies that are necessary for FDA approval begin, there will not be enough patients that haven’t used the drug to enroll in the studies. This may delay or prevent FDA approval. This website gives consumer information on Expanded Access INDs.

Considering all of the above, in 2013 the FDA mandated that all new patients who obtain stiripentol in the United States through Caligor Pharmacy must have an IND submitted to the FDA by the prescribing physician. New patients are considered those who had not been receiving a continued supply of stiripentol prior to December 2012. Patients who were prescribed stiripentol prior to December 2012 and who had received continual shipments of stiripentol from Caligor Pharmacy are “grandfathered” and will continue to be able to receive stiripentol from Caligor Pharmacy without an IND in place. Instructions on how the physician should submit the IND can be found at this link

If the physician has questions about the IND process, he or she should call FDA’s Center for Drug Evaluation and Research (CDER) Neurology division at 301-796-2250 and ask for the project manager that is handling stiripentol INDs. It is not appropriate for parents or caregivers to call this number to get information about the IND on the doctor’s behalf – the doctor or the doctor’s agent must communicate with the FDA. It is recommended that the doctor call prior to submitting the IND so that he or she has all the information necessary for the IND to go forward.

New patients whose parents or caregivers wish to import stiripentol directly from the manufacturer, Biocodex (France) through FDA’s Personal Importation Policy may order the drug without an IND in place.

Contact information for Biocodex, France

phone: +33 (0)1 41 24 30 00

email:  v.staller@biocodex.fr

Contact information for Caligor Pharmacy, NY

(212) 988-0590

email:  inquiries@caligorrx.com

Croatia (Dravet Sindrom Hrvatska)

France (Alliance Syndrome de Dravet)

Germany (Dravet Syndrom Eltern-Selbsthilfe)

Italy (Dravet Italia Onlus)

Italy (Gruppo Famiglie Dravet)

Netherlands (Stichting Dravetsyndrooom)

Romania (Dravet Romania)

Spain (La Fundación Síndrome de Dravet)

Sweden (Dravets Syndrome Association Sweden)

Switzerland (Swiss Dravet Syndrome Association)

UK (Dravet Syndrome UK)

COPING WITH GRIEF & LOSS

Losing someone you love or care about, particularly a child, is very painful. You may experience all kinds of difficult emotions and it may feel like the sadness you are experiencing will never go away. These are normal reactions to the loss of a loved one. Remember that there is no right or wrong way to grieve, but there are healthy ways to cope with the pain.

It is important that you take care of yourself and get support and/or professional help to work through the emotions you are feeling. Make certain your surviving children understand that you recognize their loss and grieving and that you love them. Open communication will help the entire family through the grieving process.

Facebook Bereavement Support Group

Tissue Donation

The vision of Dravet Syndrome Foundation is to help researchers find ways to one day prevent or cure Dravet syndrome and related ion channel epilepsies so that future generations do not have to face the devastation of these diseases.

Dravet Syndrome Foundation supports Dr. Alica Goldman and her colleagues at the Department of Neurology at Baylor College of Medicine in their establishment of 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 are collecting blood and/or tissue samples from individuals who have passed away as a result of a seizure disorder. We ask that you consider pre-registering for tissue donation once a clinical diagnosis has been made.

We understand that tissue donation occurs at a particularly emotional time for loved ones and that it is a personal and difficult decision that will not be right for everyone. By making this generous donation, you improve the chances of finding a cure and better treatment options for these diseases. If you or your loved ones have questions about the donation process, please contact Dr. Alica Goldman.

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 about. We seek to address some of these questions here.

Learn more about SUDEP Registries and Tissue Banks