Kleine Levin Syndrome Foundation
The Kleine-Levin Syndrome (KLS) Foundation has been working closely with Dr. Emmanuel Mignot and his sleep research lab at Stanford University in California for many years to discover the underlying cause and to gain a better understanding of KLS. Dr. Mignot’s lab has been assembling a very valuable resource for KLS research: a collection of blood samples, swabs and detailed KLS questionnaire data from individuals with KLS and from their relatives. Hundreds of volunteers have participated in this effort by completing questionnaires and submitting samples, but more samples are needed.
Several research ideas exploring different aspects of KLS are underway with some promising leads. Preliminary results of these research efforts were presented at the First International KLS Conference in San Francisco this past summer. Additional volunteers are needed now to further these studies and to confirm preliminary findings. Collecting blood samples is vital to the progress of KLS research.
Current critical need:
In recent years, novel genetic techniques have allowed researchers to identify new genes and new pathways in many diseases, leading toward exciting developments in basic understandings as well as treatments. There may be some genetic factors that greatly increase the risk of developing KLS, and these new genetic techniques may finally help gain a better understanding of KLS. Most of these genetic studies require large numbers of patients, and the current set of samples is just short of the number needed to allow identifying such KLS susceptibility genes. We have already identified a few potential susceptibility genes, but it is absolutely critical to increase the blood sample collection and replicate the findings. This will give confidence in the findings and ensure that only the most solid and valid candidate genes are being followed.
Because KLS is such a rare condition, the limiting factor in KLS research has been the highly limited sample pool. KLS awareness is rising, and more doctors are able to accurately diagnose KLS patients. Every single patient and family member that participates in this research study is greatly helping the cause to conquer KLS. Each additional blood sample from a new individual with KLS can tremendously help the genetic research study underway. For these genetic studies, it does not matter if you have not had a KLS episode in years.
How to Participate in the KLS Research Program:
The first step in participating in the program is to contact the Stanford University Research Program directly. Participants will first be asked to complete a research questionnaire regarding KLS. Copies of the KLS questionnaire will soon be available on line. After completion of the questionnaire, participants (typically the KLS patient and their parents) willing to provide blood samples will be required to complete a consent form. Once the form is complete a blood sampling kit (with pre-paid FedEx return) will be sent. Members of Dr. Mignot’s research team are skilled in arranging, collecting and processing samples, making participation fast and easy.
There are various research programs underway requiring different samples taken at specific times from individuals with KLS, as well as samples from parents, siblings, and friends. Although we hope that no one with KLS will ever have another episode, samples collected at designated times around an episode are very valuable and very much needed. For example:
• For the study looking for genetic predispositions to KLS, a simple blood sample is needed that can be taken at any time, and particularly helpful if accompanied by a blood sample from parents and family members.
• For other studies looking for possible KLS blood markers and to gain a better understanding of the long-term progression of KLS, a blood sample from the same individual is needed during a healthy period and during a KLS episode.
• For studies looking for possible infectious causes of KLS, throat and nasal swabs are needed to be taken as close as possible to the beginning of an episode.
Participation is simple. There is no financial cost to volunteers in the study, as everything is covered for the participant by Stanford University. The lab provides all sample collection kits and return mailers. If you are able to participate in the KLS Research Study, or if you know somebody that may be interested, please contact Ms. Mali A. Einen, Clinical Research Coordinator at Stanford University. Her contact information is as follows:
Ms. Mali A. Einen
Clinical Research Coordinator
Stanford University Center for Narcolepsy
450 Broadway Street
Redwood City, CA 94063