The Scientific Advisory Board (SAB) of the Hypersomnia Foundation (HF) continues to develop a plan that includes raising awareness about hypersomnia among clinical and basic science researchers. Dr. David Rye, Chair of the SAB, for example, recently presented updated information about hypersomnia at the North Carolina Academy of Sleep Medicine Conference in Raleigh, NC., at the Board of Registered Polysomnographic Technologists Symposium in Atlanta, and will be speaking March 25 at the Southern Sleep Society Meeting in Houston, TX.
Aligning with this plan of awareness Dr. Lynn Marie Trotti, Chair of the Hypersomnia Foundation's Medical Advisory Board , discusses advances in diagnostics of, and treatment for, hypersomnia. Dr. Trotti will be presenting this information at the American Academy of Neurology conference in Boston, April 2017.
The HF continues to promote the Hypersomnia Foundation's registry housed at CoRDS (Coordination of Rare Diseases at Sanford). Over 500 people with a central disorder of hypersomnolence (idiopathic hypersomnia, narcolepsy types 1 and 2, and Kleine-Levin syndrome) have successfully completed this registry.
Another key component of this plan is a grants program that will financially support innovative research applications that are most likely to positively impact the hypersomnia community. Announcement of this program to the scientific community will depend upon having funds in hand sufficient to attract the best science as well as sustain this initiative. We continue raising funds to insure a vibrant funded research program.
An insatiable need to sleep that is not eased by a full night’s slumber is one of the debilitating effects of a rare, chronic neurological disorder called idiopathic hypersomnia (IH). In a society where feeling tired is the norm, IH is often unrecognized or misdiagnosed by medical professionals, as well as misunderstood by family members, employers, and society in general.
IH often strikes people in the prime of their lives. No US Food and Drug Administration-approved treatments exist, although wake-promoting medications are sometimes prescribed "off-label."
Unfortunately, these medications don’t work well for everyone, and most stop working over time or have bothersome side effects. Even when medications do help people with hypersomnia stay awake during the day, they may not help with other symptoms of IH, such as extreme difficulty making the transition from sleep to waking (called sleep inertia or sleep drunkenness) that can negatively impact mental and physical tasks and often manifests as cognitive dysfunction. The relentless nature of the disorder makes it extremely difficult for people with IH to hold down jobs, remain in school, maintain marriages, and fully engage with their family and friends.
The Scientific Advisory Boardof the Hypersomnia Foundation is creating a plan to raise awareness about hypersomnia among clinical and basic science researchers. One key component of this plan is a grants program that will financially support innovative research applications that are most likely to positively impact the hypersomnia community. Announcement of this program to the scientific community will depend upon having funds in hand sufficient to attract the best science as well as sustain this initiative. There are multiple reasons that we need to fund research for IH:
We don’t really know how many people have IH. This number is vital for scientists to apply for grants and so that we can encourage pharmaceutical companies to study IH.
We don’t have a biomarker—a substance in the body, such as blood or spinal fluid—that can tell us whether or not a person has IH.
The tests that we do have are often inaccurate, and repeating them is very expensive.
No drugs have US Food and Drug Administration approval for the treatment of IH.
Idiopathic hypersomnia (IH) is a rare neurological disorder with symptoms of excessive sleep(iness) and sleep inertia. There is no test that can diagnose the disorder with certainty and there are no FDA approved treatments. As a result there is an unmet clinical need for people with hypersomnia. Due to a lack of a specific biomarker, diagnosis, therefore, can take decades, treatments are experimental, and the disabling effects of symptoms have a negative emotional, social and financial impact for people with hypersomnia and their loved ones.
The Hypersomnia Foundation strives to improve the lives of people with idiopathic hypersomnia and related disorders by advocating on their behalf, providing support, educating the public and healthcare professionals, raising awareness, and funding research into effective treatments, better diagnostic tools, and, ultimately, a cure for these debilitating conditions.
As part of this mission the Hypersomnia Foundation is working with Dr. Amanda Freeman to create a two part series titled GABA 101 - part 1 and part 2. Dr. Freeman earned her PhD in Neuroscience at Emory University for research working with a team that have identified a novel neuroanatomical pathway that linkes dopamine to sleep regulatory circuits. She collaborated with this team of clinicians and basic researchers to discern the mechanism underlying GABA-related primary hypersomnia. The recent identification that hypersomnia may be caused in many cases by an endogenous peptide that accumulates in the brain and mimics the actions of sedatives and anesthetics, has attracted considerable attention since its discovery in 2012.
The GABA 101 - part 1 and 2 series, is being produced as part of the Hypersomnia Foundation's programs to increase awareness and education in primary hypersomnia and will be placed on its website for all interested viewers. The script for part 2 has been written, and the audio/video aligning with Dr. Freeman's Power Point Presention has been completed. This project is in the vetting and editing phase in preparation of launch on the website.