Research supported by KLS Foundation Grants

For more than 20 years, the KLS Foundation has been the primary funder of trailblazing medical research about KLS.

The KLS Foundation encourages broad scientific investigation into KLS. We are committed to increase the community of doctors and researchers searching for a cause and a cure.

The KLS Foundation is grateful to investigators, researchers, and friends of the KLS Foundation around the world for their continuing scholarship and dedication in search of answers about KLS. You can find publications about KLS research here.

The KLS Foundation is grateful to every KLS patient and their family members and friends who have participated in research. With every volunteer, we move closer to finding a cause and a cure.

Following is a summary of ongoing research projects, including links to participate.

Stanford University, Palo Alto, California

Emmanuel Mignot, MD, PhD; Andrea Goldstein-Piekarski, PhD

Lifetime KLSF grants totaling $443,550

Dr. Emmanuel Mignot is a champion of KLS research and a long-time friend of the KLS Foundation. Listen to Dr. Mignot explain his lab’s most recent KLS research in this video from October 2022.

The research challenges to studying KLS are many. Dr. Mignot began studying KLS by establishing the largest repository of KLS clinical samples in the world. This enables his lab and collaborators to explore several hypotheses about KLS. The active avenues of investigation at Stanford University are:

Genetics studies

While KLS does not present as a classic genetic disease, there are aspects which suggest that in some KLS cases there may be a genetic predisposition. Dr. Mignot is attempting to identify such genes associated with KLS. Results from the first long-term genetics study were published in 2021 in the scientific journal PNAS. This study utilized clinical samples from over 800 cases of KLS collected during 17 years and examined genetic differences between individuals with and without KLS. Results indicate a possible susceptibility to KLS when an individual has a DNA variation in the “TRANK1” genomic region and experienced difficulties at birth.

Further genetic research is critical and more KLS patients are very much needed to volunteer for studies. Please sign up to submit a simple blood sample and help further genetic research here.

Proteomics studies

Proteins in our bodies serve major functions including protecting against disease. Because many human diseases result from defective production or the mis-regulation of proteins, “proteomics” research may offer the key to the cause and treatment of KLS. But there is a distinct challenge in studying proteins: There are tens of thousands of different protein types found throughout the body and until recently, only a few different protein types could be studied at one time. Dr. Mignot has employed a revolutionary, cutting-edge technology that allows the study of thousands of proteins at a time.

Results from Dr. Mignot’s first proteomics study found several exciting discoveries: In a survey of the levels of over 1,000 different proteins in KLS patients as compared to individuals without KLS, certain proteins were distinctly found in both higher and lower amounts. These proteins are known to be involved in some specific biological functions, such as the immune system, providing new insights to KLS. One exciting prospect is to see if these proteins are reliable biomarkers to help in KLS diagnosis.

These findings, published in 2022 in the scientific journal SLEEP, are important steps toward discovering what is happening in the body during a KLS episode, and what might cause KLS.

Dr. Mignot needs new samples from KLS patients to repeat this study to confirm and extend the results. Participation requires answering a few questions and sending in a blood sample. Please sign up to be part of the proteomics research here.

Actigraphy study

Dr. Andrea Goldstein-Piekarski is the principal investigator for the Stanford University actigraphy study about KLS. The study seeks to identify sleep and circadian rhythm characteristics of KLS patients during and in between KLS episodes, and to explores KLS symptoms and triggers. Study participants wear a watch like a Fitbit, which tracks heart rate, nightly sleep patterns, and daily exercise.

Dr. Goldstein-Piekarski is seeking additional volunteers to wear the Fitbit-like watch. Volunteers get to keep the watch after the study.  Please sign up to wear an actigraphy band for this Stanford University KLS study here.

Pitié Salpêtrière Hospital, Paris, France

Isabelle Arnulf, MD, PhD

Lifetime KLSF grants totaling $75,300

Dr. Isabelle Arnulf was first intrigued by KLS more than 15 years ago during a sabbatical visit to Dr. Mignot’s Stanford lab, and today the two researchers frequently collaborate on KLS research. Dr. Arnulf is the lead author, along with Dr. Mignot, on two seminal publications on KLS: the first literature review in 2005 of 186 KLS cases and the first large cohort KLS study in 2008 involving 108 KLS patients. Dr. Arnulf is also a senior author of the 2021 PNAS genomics article and the 2022 SLEEP proteomics article about KLS as described above.

Listen to Dr. Arnulf discuss her work with the KLS Foundation community in this video from July 2022.

Brain scintigraphy study

One area of Dr. Arnulf’s current research measures sleep, EEG, circadian rhythms, and cognition in KLS patients between episodes. In the first completed part of the study, KLS patients were observed during a 48-hour sleep study. Dr. Arnulf is now undertaking the second part of the study with people who do not have KLS. Comparing the results from the two parts of this research will help generate new understandings about KLS.

If you know someone who lives in France and does NOT have KLS, healthy control volunteers are needed. Please sign up for Dr. Arnulf’s control study by e-mailing  Maéva Cazeres (maeva.cazeres@aphp.fr) and Saba Al-youssef Attallah (Saba.alyoussefattallah@aphp.fr).

Last updated: December 2022

 

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