Hypersomnia Foundation

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Hypersomnia Research-Where We Are And Where We Are Headed

During the presentation by David Rye, MD, PhD titled “What are the latest developments in research on idiopathic hypersomnia?” at the Beyond Sleepy in the Mile-High City Hypersomnia Conference, he pointed out that, while on the one hand without a known biological biomarker there is a large unmet clinical need for people with idiopathic hypersomnia, on the other hand a growing awareness garnering increasing interest and recognition within the medical community is gaining momentum.

Following is an abbreviated summary of his talk prepared by Dr. Michelle Emrich.  As Dr. Rye had mentioned this is not an all-inclusive list but specific highlights of recent development in research, collaboration, and treatments of idiopathic hypersomnia:

  • In the fall of 2016 The Emory University sleep research team and collaborators anticipate applying for a newly announced FDA orphan products natural history grant that has the possibility to yield $400,000/yr of additional financial support for up to 5 years.
  • Nearly half of chronic fatigue syndrome patients meet MSLT criteria for IH. Data not yet published. Population based control MSLTs (n=1019) summarized courtesy of E. Mignot vs. CFS (n=46) from Wichita, KS (Reeves WC, et al BMC Neurol (2006); 6:41).
  • Studies of non-sleepy controls indicate that nearly ¼ (22%) are asleep by 8 minutes, which demonstrates that MSLT based criteria of ≤ 8 minutes put forward by the International Classification of Sleep Disorders (ICSD) is poor at discriminating IH from controls (i.e., it is a “poor” test in lacking specificity).
  • 71% of IH with long sleep have MSLT > 8 min (i.e. considered to be normal), showing that MSLT based criteria also have poor sensitivity for rendering a diagnosis of IH (C Vernet and I Arnulf, Sleep (2009)).
  • A “cluster analysis” (i.e., unbiased probing for the degree of commonality ofsymptoms) by Sonka, Susta and Billiard suggests that IH and Narcolepsy Type 2 (NT-2) share more similarities than differences. (Narcolepsy with and without cataplexy, idiopathic Hypersomnia with and without long sleep time: a cluster analysis.  Sleep Medicine 16(2):225-31).
  • Dr. David Plante (U. Wisconsin) is continuing his work looking at hypersomnia in affective disorders (e.g., depression and bipolar disease). Sleep propensity in psychiatric hypersomnolence: a systematic review and meta-analysis of MSLT findings.  Sleep Medicine Reviews – in press (2016).
  • Dr. Plante has a five-year K23 training grant from the National Institutes of Health (NIH). Research
    • Aim #1: to probe for deficits in slow wave electroencephalogram (EEG) activity in depression with hypersomnolence as standard sleep variables demonstrate increased sleep duration with normal efficiency in major depressive disorder (MDD) with comorbid hypersomnolence.
    • Aim #2: increased EEG slowing during wakefulness. Global reductions in pre/post sleep waking theta frequency band in MDD without hypersomnolence (relative to controls and hypersomnolent group).
    • Aim #3: Investigate slow wave induction as a treatment strategy. Subject recruitment is planned for Fall 2016.
  • Dr. Plante has also been successful in getting a strategic research award from the American Sleep Medicine Foundation (ASMF) to test the usefulness of a multidimensional assessment in improving the evaluation and treatment of hypersomnolence. Questions he’ll be looking at with this research award:
  1. Do novel objective hypersomnolence measures incorporated into routine MSLT workflows capture aspects of hypersomnolence not quantified by current standards?
  2. Is the Hypersomnia Severity Index a valid subjective measure in patients referred for evaluation of suspected CNS disorders of hypersomnolence? This is a new index he’s developed.
  3. Do novel objective measures of sleepiness and the Hypersomnia Severity Index faithfully capture improvement with treatment?
  • Dr. Lynn Marie Trotti (Emory University) also has been awarded a K23 training grant from the NIH relevant to IH and hypersomnia.
    • Aim 1: Define functional neuroimaging signatures of pathological sleepiness of different etiologies (IH vs. Narcolepsy Type 1 during WAKE). She anticipates unique signatures by disease state diagnosis in FDG-PET regional hypo- metabolism. She hypothesizes that in the resting state functional magnetic resonance imaging (fMRI) will reveal increased connectivity within what has been termed the brain’s “default mode network” (DMN) whereas portions of this brain circuit will deactivate when subjects perform a simple cognitive task (N-back). Diffusion Tensor Imaging (DTI) – decreased fractional anisotropy will also be explored. Aim 2: Brain circuits underlying the symptoms of sleep drunkenness in IH will be explored with similar imaging modalities.
  • Dr. Andy Jenkins’ (Emory University Depts. of Anesthesia and Pharmacology) research continues to move forward. Midazolam and other drugs in the benzodiazepine class exert their sedative actions via gamma-amino-butyric acid (GABA) by binding between the alpha and gamma subunits of the GABA-A receptor. Dr Jenkins and his team are attempting to decipher precisely the presumptive somnogen that contributes to hypersomnia in many IH and NT2 patients that is acting on the GABA-A receptor. They are methodically exploring the % change in small, GABA-mediated current results after making single amino acid substitutions on the alpha2 subunit of the GABA-A receptor. So far they have successfully identified how small changes dramatically influence how well GABA does its job.
  • Is somnogen bioactivity specific to IH or might it be a biomarker for other origins of hypersomnia/hypersomnolence?  The large NIH R01 grant awarded to Emory University and Dr. Rye supports studying this by comparing IH & NT2 and their spinal fluids with clinical features and spinal fluids collected from sleepy and non-sleepy sleep apnea patients, and non-sleepy controls. They are also anticipating assessing Kleine-Levin-Syndrome (KLS) patients both when in and out of their episodes of hypersomnia.

In order to help discover/define the biological pathways in which the somnogen calls “home” as well as, ultimately, the very nature/structure/chemical identity of the somnogen itself, the Emory University sleep research team is collaborating with:

  1. Dr. Nicholas Seyfried – Assistant Professor in the Emory Dept. of Biochemistry is the lead investigator applying proteomic methods to spinal fluid samples.
  2. Dr. Art Edison – A University of Georgia (U) Georgia Research Alliance scholar is the lead investigator applying metabolomics methods to spinal fluid samples.
  3. Dr. Mark Bouzyk – Founder and Chief Scientific Officer of AKESOgen – is studying genetics
  4. Dr. Gary Bassell – Chairman of Emory’s Dept. of Cell Biology – is especially interested in studying myotonic dystrophy patients (in whom hypersomnia is a prominent symptom). RNA splicing abnormalities in myotonic dystrophy cause problems with proteins derived from RNA. The GABA 2γ receptor subunit in myotonic dystrophy because of this altered splicing yields a receptor more sensitive to the effects of the sedating benzodiazepine midazolam (see above).

Genetics/Molecular Biology- Daly DD and Yoss RE A family with narcolepsy (Mayo Clinic Proceedings (1959) 34:313-319). Dr Rye spoke about this during this conference as well as at the 2015 Hypersomnia Foundation Conference.   Four generations of this family were identified. Narcolepsy Type 1 is now known not to be as heritable as the sleepiness described in this family. Only 3 of 13 (16) of these family members exhibited cataplexy. So hypersomnia/hypersomnolence, not Narcolepsy Type 1, appears to be what’s being inherited in this family. Dr Rye also showed several smaller family trees collected at Emory, in which IH, Narcolepsy Type 2, and long sleepers cluster together in families.

Toward genetic research Dr. Rye/Emory has collected $187,500 in donation commitments to begin studies of the genetic components underlying IH and related disorders.  The overall goal is to raise $250,000 to fund these preliminary studies, and using this data to position themselves to apply for larger streams of NIH or foundation funding. They are in the process of collating samples and deciding how to best assign diagnoses given the diagnostic challenges alluded to above (e.g,  IH vs. Narcolepsy Type 2 vs. long sleepers).  The team is also discussing internally and with external collaborators what best first strategies to employ (Genome Wide Association Studies (GWAS) vs. whole exome sequencing [which would be feasible and possibly more fruitful with larger families inclusive of affected and unaffected individuals]).
Most comparable GWAS studies require  ~ 1000 samples. The Emory sleep program has 825 plasma samples, 783+ DNA samples, 473 CSF samples. Including DNA samples collected since November 2015 waiting cataloging into their larger biorepository.
Also, 11 patients with repeat CSF samples have been collected under different clinical conditions, which should be very useful for determining what features are unique to wellness vs. hypersomnia by way of proteomic and metabolomics comparisons.
Very recently skin biopsies h=are being collected to derive fibroblasts from which they are then able to morph into immature brain cells to study more intensively, and in a repeated manner.

Clinical Trials & Treatments:  Pentylenetetrazol (PTZ; aka BTD-001). This is an anti-GABA-A receptor study drug with mechanism action similar to that of clarithromycin.  It is being further developed/studied by Balance Therapeutics for the treatment of cognition and memory deficits in Down’s Syndrome as well as hypersomnia/hypersomnolence in IH and Narcolepsy Type 2.  Interestingly, PTZ is still available as one ingredient (viz., cardiazol) of a cough syrup available in Italy. This is the ongoing clinical trial with the acronym of ARISE. Www.arisestudies.com is the first industry sponsored clinical trial of any treatment seeking FDA approval for treatment of IH. This trial is testing the efficacy of Pentylenetetrazol (PTZ) in a rigorous, controlled, crossover, and blinded design.  ARISE is actively enrolling patients at > 20 centers including Emory University (see the website for participating centers). This drug has a long and substantial safety record (i.e,. Phase 1 requirement of safety in humans has already been established). A small, unblinded Phase IIa study – 5 subjects (3 IH and 2 Narcolepsy Type 2) each with hypersomnia responsive to clarithromycin and/or flumazenil demonstrated very promising results. So much so that the much larger Phase IIb study is moving forward necessitating recruitment of 120 subjects (60 each with IH and Narcolepsy Type 2).

Emory’s open label experience with flumazenil continues to be promising and publication of their “open-label” experience in an initial 153 treated patients is forthcoming. The paper was accepted June 27, 2016 publication in the Journal of Clinical Sleep Medicine. Beyond this experience which is limited to those patients seen and treated by Drs. Rye or Trotti prior to January 1, 2015, it is estimated that nearly 300 patients with hypersomnia resistant to traditional treatments with wake promoting drugs have been empirically treated with flumazenil through Emory’s outpatient sleep clinic alone.  Many additional physicians outside of Emory are increasingly prescribing flumazenil to their patients.

Much has transpired since the 1950’s when Dr. Bedrich Roth coined the term “idiopathic hypersomnia” and progress will continue as we work together and tease out understanding of the causes of idiopathic hypersomnia.

Posted in: BeyondSleepy, Conference, Education, Hypersomnia, Research, SomnusNooze

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Sleep Disorders and Social Security– What You Need to Know

Social Security Disability Series: Part 2

Sleep Disorders and Social Security Disability – What You Need to Know

By Anjel Burgess, JD

Jennie has been fortunate enough to secure her short-term disability benefits. She has also hired an Attorney to assist her with the Social Security Disability application process. Although her family encouraged her to “file on her own instead of paying out of pocket to hire an attorney,” Jennie has learned throughSomnusNooze that Social Security Disability attorneys are not paid by a retainer, as many attorneys are. Rather, they work on a contingency basis, which means that Jennie does not have to pay out of pocket to get representation. For the attorney to get paid, two conditions must be met:

  1. The attorney must win Jennie’s case.
  2. Jennie must be entitled to past-due benefits (also known as back pay).

If both conditions are met, the Social Security Administration (SSA) will pay Jennie’s attorney 25% of Jennie’s back pay, up to a maximum of $6,000. Since obtaining the benefits is of the utmost importance to Jennie, she has decided that she can’t afford NOT to have an attorney. She has hired an attorney who will file an initial application for her and represent her through each step of the process.

Jennie’s attorney has explained to her that most people who receive Social Security Disability benefits have been through a three-step process and that it may take two years or more before she is approved (note that in some states, it is a 2-step process, as the Reconsideration step is eliminated). These steps include the following.

  1. Initial – Roughly 30% to 35% of applicants are approved at this level. Once SSA receives the initial application, they request medical records from Jennie’s providers. Once the SSA receives Jennie’s medical records, SSA will have its own physician or psychologist (or both a physician and psychologist) review the medical records to give their opinion as to what limitations they believe that Jennie has, as well as the impact of those limitations on her ability to work. This would also include a review of the opinion of Dr. Wonderful and any other of Jennie’s treating physicians. Oftentimes, SSA will decide that they need an outside opinion in making their decision. If this occurs, the SSA may require that Jennie be examined by an independent physician or psychologist (at SSA’s expense) who may not have an expertise in idiopathic hypersomnia. This independent professional then prepares a report that summarizes her or his observations and professional opinion. If the case is denied initially, Jennie can appeal.
  2.  Reconsideration – Roughly 7% to 10% of applicants are approved at this level. At the Reconsideration step, SSA obtains updated medical records and completes another internal review of Jennie’s file to see if any new evidence would result in a favorable outcome. It is possible that the SSA may send Jennie out for an independent examination at this stage as well. Again, if Jennie is denied, she can appeal.
  3. Hearing – Roughly 50% to 55% of the remaining applicants are approved at this level. This is the stage at which most people are awarded benefits, particularly after attending a hearing in front of an administrative law judge. The hearing is the opportunity for Jennie and her attorney to present the big picture to a judge. The big picture includes all medical records and testimony from Jennie herself. Jennie’s attorney will also have the opportunity to make oral and written arguments on Jennie’s behalf.

The common theme in each step of the process is medical records. Medical records are vital in a disability case because they can provide objective support for an individual’s complaints. For Jennie, her medical records tell the story of a very symptomatic individual who tried multiple medications but could only be productive for about 3 hours throughout the day. Her doctor ruled out many other conditions, and was able to confirm the diagnosis of idiopathic hypersomnia via a polysomnogram and Multiple Sleep Latency Test. Jennie’s medical records provide proof that she has idiopathic hypersomnia and authenticate her symptoms, which are reasonably due to idiopathic hypersomnia.

If you, too, are ready to file for Social Security Disability or have been denied at any step in the process, contact a qualified Social Security Disability Attorney to assist you with the process.

Anjel Burgess is a partner/attorney at the Law Firm of Burgess and Christensen located in Marietta, GA. She exclusively practices Social Security Disability Law for adults and children, as well as the ancillary areas of Guardianships and Special Needs Trusts. By doing so, she has been able to make a positive difference in the daily lives of people who need help the most. You may reach her at Anjel@DisabilityHelpLine.com or 770-422-8111. You can learn more about her services at www.DisabilityHelpLine.com

Have you joined the registry yet?
A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS  (Coordination of Rare Diseases at Sanford), the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2). Becoming part of the registry is easy and it could help solve the puzzle of hypersomnia! Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button.

A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS (Coordination of Rare Diseases at Sanford), the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2). Becoming part of the registry is easy and it could help solve the puzzle of hypersomnia! Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button.

 

Watch Beyond Sleepy in the Mile-High City

Denver6

Were you one of the more than 1250 people who joined us at Beyond Sleepy in the Mile-High City, the Hypersomnia Foundation’s Regional Conference, in person and online on June 12, 2016? If not, you can still watch the conference in its entirety by registering at http://www.hypersomniafoundation.org/2016-hypersomnia-regional-conference-register/. If you previously registered and missed any part of the program–or simply want to watch it again–please go to http://www.hypersomniafoundation.org/2016-hypersomnia-regional-conference-live/. The video will only be up for two more weeks!

 

Posted in: Action, Awareness, BeyondSleepy, Conference, CoRDS Registry, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, News, SomnusNooze, SSDI

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Solving the Puzzle of Hypersomnia One Piece at a Time

The Hypersomnia Foundation Board of Directors is thrilled to announce the launch of the Hypersomnia Foundation’s Registry at CoRDS (Coordination of Rare Diseases at Sanford). Whether you have idiopathic hypersomnia, Kleine-Levin syndrome or narcolepsy type 1 or 2, please enroll in the Registry today to help solve the puzzle of hypersomnia. Your information will help researchers comprehend the journey that people with hypersomnia travel in their search for a diagnosis and will answer many other questions, including the symptoms that you experience, which may help to distinguish among these disorders, and the treatments that have and have not worked for your symptoms. Registration is simple (the second figure below describes the process). Simply go to http://www.sanfordresearch.org/cords/ and click on the ENROLL NOW button. Your answers to the Registry questions will help researchers design better diagnostic tools and more effective treatments and, eventually, find a cure. CoRDS personnel are available to help you, if needed, during the registration process. They can be reached at cords@sanfordhealth.org or 1 (877) 658-9192.

 

What is a Registry? A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS, the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).

What is a Registry?
A patient registry is a collection that is established to collect standardized information about a group of patients who share a common condition or experience. In the case of the Hypersomnia Foundation Registry at CoRDS, the people who participate have one of the central disorders of hypersomnolence: idiopathic hypersomnia, Kleine-Levin syndrome, or narcolepsy (type 1 or 2).

cords process

CoRDS Registration Process

 

Posted in: Action, Awareness, BeyondSleepy, CoRDS Registry, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, SomnusNooze

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Five More Days!

Only five more days until the 2016 Hypersomnia Foundation Regional Conference!!!

Are you joining us in Denver or tuning into the live Internet broadcast? Either way, we understand that you might have a few last-minute questions, so we’ve put together a list of recently asked questions.

1. My schedule just changed, and I’ll be able to make it to Denver after all. Can I still buy a ticket?

Yes, you can, but we have only a few tickets left (At the time of publication, we had 4 tickets left). To purchase a ticket to attend Beyond Sleepy in the Mile-High City in person, please click on this link or purchase a ticket here http://2016hypersomniaconference.eventbrite.com/

2. I have purchased my ticket for Beyond Sleepy in the Mile-High City. I would like to get together with other people with hypersomnia. Where can I find them?

You’re in luck! We have created three separate opportunities to get together with other conference attendees. On Saturday evening, June 11, at 6 pm, we will gather in the Atrium Alcove on the fourth floor of the Embassy Suites Hotel, 1420 Stout Street. This informal gathering will include a cash bar, games, and camaraderie. On Saturday, we will be reserving tables so that we can all sit together for breakfast beginning at 7:30 am in the Embassy Suites Hotel (breakfast is not included). Head to the meeting room (Crestone) on the third floor of the Embassy Suites Hotel beginning at 10 am, where, once you have completed the sign-in process, you can just sit and chat or make plans with others gathered there to go out for lunch before the conference begins at noon.

3. What time will Beyond Sleepy in the Mile-High City get underway?

We will be starting promptly at noon, Mountain Daylight Time. People from around the world will be tuning in, so please calculate your viewing time based on GMT-6.

4. Will we have any food?

Well, this answer depends on how you are participating. We will be serving light refreshments at 2:00 pm at the Embassy Suites Hotel in Denver, underwritten in part by a grant from Pavilion Pharmacy. If you are watching via the Internet, you are on your own for snacks.

5. I am coming to the conference in Denver, but I know that I will have trouble remembering everything that the speakers are saying. Can I watch the Internet streaming later to refresh my memory?

YES!!! You can buy a ticket for the Denver conference and register on the Hypersomnia Foundation’s website to watch the streaming video. Once you have registered for the streaming video, you will be able to view the event as many times as you would like between June 13 and July 11, 2016. We are also working on creating a permanent link to the videos, but we don’t want to make any promises at this point.

6. I live in Australia. The Hypersomnia Foundation Conference, Beyond Sleepy in the Mile-High City, will be live at 4 am in my timezone. Are there any other options to watch?

YES!! Take a look at the response to the previous message.  Please complete the registration on the Hypersomnia Foundation’s website (http://www.hypersomniafoundation.org/register/) and you will be able to view Beyond Sleepy in the Mile-High City as many times as you would like between June 13, and July 11, 2016.

7. My sister would like to watch the Beyond Sleepy in the Mile-High City, but she is not on the Hypersomnia Foundation’s mailing list. Can she still watch the program?

YES!! She is more than welcome to join us. The purpose of this program is to educate anyone who would like to learn more about hypersomnia. From teachers and professors to employers, parents and friends, spouses, and children, doctors and pharmacists, the program will help people understand the full impact of hypersomnia on the lives of those affected. Registration is open to anyone with a streaming device and an Internet connection. Please widely share this link (http://www.hypersomniafoundation.org/register/) to the registration page and encourage as many people as possible to take part.

We hope this answered any questions you may have had and we look forward to your attendance at the conference! Please direct any additional questions you may have to conference@hypersomniafoundation.org

Posted in: Awareness, BeyondSleepy, Conference, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, SomnusNooze

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Act Today and Let Your Voice Be Heard

Very recently, the Hypersomnia Foundation became aware of an opportunity to help shape the future of sleep research. The National Institutes of Health, the primary source of funding for medical research in the United States, has issued a Request for Information, which you can view at: https://grants.nih.gov/grants/guide/notice-files/NOT-HL-16-312.html.

The final date to submit your comments has been extended to today, May 16, 2016.Screen Shot 2016-05-16 at 12.41.44 PM

Last week, we sent an email to everyone in our database to encourage you to make your voices heard. We are urging you again to act today. Please share your hypersomnia story with the people who determine medical research priorities and allocate funds.

  • Tell them why the currently available diagnostic tools and lack of awareness about hypersomnia led to a lengthy delay in your diagnosis.
  • Tell them why research into the cause of and effective treatments for hypersomnia are so desperately needed.
  • Tell them why we need a cure as soon as possible because hypersomnia is limiting your ability to achieve your dreams, complete your education, or even provide financially for your family.

Please join your voice with ours as we fight to secure the place of hypersomnia at the top of the nation’s sleep research agenda. The Hypersomnia Foundation Board of Directors has submitted the following response, and we encourage you to send your comments and suggestions to the NIH, as you deem appropriate, at rfi-sleepplan2016@collaboration.nhlbi.nih.gov.


 

Hypersomnia Foundation Response
to the National Institutes of Health’s Request for Information:

For nearly a century, the study of sleep and its function(s) in health and disease has been principally focused within approaches that center on not enough sleep. Although excessive daytime sleepiness (EDS), cognitive dissonance, and other symptoms not surprisingly result from sleep deprivation, central disorders of hypersomnolence (CDH; e.g., idiopathic hypersomnia, Kleine-Levin syndrome,
narcolepsy type 1 [NT1], and narcolepsy type 2 [NT2]) in humans (in which EDS is often accompanied by extremes of sleep length) emerge spontaneously. Studying patients with CDH has already proven to be fertile ground for investigation, as evidenced by the discovery that loss of brain hypocretin causes narcolepsy with
cataplexy (i.e., NT1). Yet, for the other CDH, there remains a large unmet clinical need, with further research and development prime for discovery and the potential for extraordinary translational opportunities.

Symptoms of CDH can be disabling, and because, for example in NT1, they also begin in adolescence or young adulthood, are chronic, sometimes progressive, go undiagnosed or misdiagnosed for decades, and respond variably to medications.
Despite advances around NT1, the knowledge gained has not translated smoothly to
the clinical realm. Diagnoses of CDH inclusive of NT1 since 1975 have relied upon a
forty-year-old test (viz., the Multiple Sleep Latency Test [MSLT]) that is cost, time,
and labor intensive and that was born of practical necessity and subsequently
tweaked to specifically identify NT1. In 2006, two preeminent sleep researchers concluded that the MSLT yields “a large number of false-positives” and that an increased daytime propensity to REM-sleep—traditionally accepted to be the sole domain of NT1—does “not appear to have any specific pathognomonic significance.” Yet, in 2016, the MSLT remains the gold standard that drives diagnoses and all that it implies. For clinician scientists, this means, for example, how clinical trials are designed and studies of heritability are conducted. Even more so, for patients, this has enormous implications for prognosis, treatment choice, access to medication(s), and accommodations/disability status.

There are currently no FDA-approved treatments for the CDH—medication choice being limited to those for narcolepsy. Since the 1930s, conventional
psychostimulants such as ephedrine have been used to treat NT1. The majority of the current pharmacological armamentarium and drug development are similarly designed and focused upon promoting wakefulness by enhancing brain monoamines. Drugs more directly designed to replace hypocretin continue in development 16 years after the discovery of hypocretin. An alternative construct in approaching the biology and treatment of CDH has recently been proposed that appears to hold great promise for many patients. People with CDH without NT1 (i.e., hypocretin being intact) do not appear to suffer from any “loss of function” per se but, rather, a gain of function in sleep-promoting brain circuits. Thus, pharmacologic agents that antagonize the sleep-promoting and consciousness-dampening neurotransmitter gamma-aminobutyric acid (GABA), such as flumazenil, clarithromycin, and pentylenetetrazol, have either been demonstrated to be effective or are in clinical trials for CDH patients in whom traditional wake-promoting agents have not been helpful.

We advocate for initiatives to fund discovery research that translates to improve the human condition of people with CDH in whom sleep is prolonged and ostensibly persists into “wake.” Enhanced recognition and improved treatments call for greater understanding of not only the clinical spectrum of CDH and the natural history of these disorders, but also mechanistic understanding of their biological underpinnings. Diagnostic tools that are highly discriminative and designed to capture more than just EDS and an increased daytime propensity to REM sleep are an absolute necessity. CDH remain diagnoses of exclusion such that greater understanding of potential mimics—which themselves would enhance mechanistic understanding of sleep—and biomarker discovery are also high priorities. As there are numerous stakeholders in such endeavors, as evidenced in the summary provided above, the absolute need to encourage greater dialogue and collaboration among patients, patient advocacy groups, professional organizations representing sleep physicians, funding agencies, and industry cannot be understated. With increasing dissemination of knowledge through many means, not the least of which includes social media, patient consumers with CDH-like symptoms have become increasingly knowledgeable. They are acutely aware that CDH outside the realm of NT1 is not well served by current medical knowledge or practice in this realm. Accepting the status quo risks alienating the public and medical consumer.

We would, therefore, propose including a sleep neurobiologist on the NHLBI Sleep
Disorders Research Advisory Board and developing mechanisms for solicitation of
program projects and set-aside funds specifically to research hypersomnia, with requests for proposals to prioritize filling unmet clinical needs in the following areas:

R37 Javits Neuroscience Investigator Award
NIH EUREKA grants
R13 funding to support conferences
T32 grants for postdoctoral study
RFAs and more specifically RFPs
SBRI funding for better diagnostic tools

Because the breadth of scientific inquiry or line of investigation needs incredible resources and sustainability, we would advocate for funding initiatives with set-aside monies at all levels of training, including predoctoral, doctoral, postdoctoral, junior investigator, and senior investigators, and we envision promoting set-aside monies for all the Career Development K Awards for investigators with projects relevant to CDH.


 

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Learn about the latest hypersomnia research on June 12th at the Hypersomnia Foundation’s regional conference, Beyond Sleepy in the Mile High City. Scientists will share findings from their recently completed clinical trials and other ongoing studies, lead us on a journey through the drug discovery and approval process, and help us to cope with the daily struggles of hypersomnia. You will also learn how your future participation in the registry can help to solve the puzzle of hypersomnia.

Tickets are running out so order your $25 ticket online to join us in person in Denver or wait until June 1 to sign up for a live Internet stream of the conference, brought to you free of charge through the generous support of Balance Therapeutics, Inc., and Flamel Technologies, SA.

 

 

 

Posted in: Action, Awareness, Education, Hypersomnia, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy, News, Research, SomnusNooze

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Crash Course: Public School Accommodations for Children with Hypersomnia

Crash Course: Public School Accommodations for Children with Hypersomnia

By Kate Pece, M. Ed.

In this series of 4 articles, you will learn how to navigate the public school system for accommodations under a 504 plan. This first article gives a broad overview of initiating the process so that you may get started right away. 

Part 1: 504 Primer
If your school-aged child has a diagnosis of hypersomnia, you have probably seen the impact of the disorder on your child’s academic progress. Until now, you may have had mixed results in getting the support your child needs in public school. With the doctor’s diagnosis, however, you may now request legally binding, formal accommodations under Section 504 of The Rehabilitation Act of 1973. reading-23296_1280

In brief, a 504 plan provides your child in public school with specific accommodations to “level the playing field” when your child is symptomatic. (Private schools may also write 504 plans, but most will provide accommodations without the formal process outlined in federal law.) Pursuing a 504 plan requires that you submit certain documentation and attend a meeting that includes you, your child, the 504 coordinator at the school, your child’s teachers, and possibly other school personnel, such as the counselor or school nurse.

Begin the process by asking for the name and contact information of the 504 coordinator at the school. Contact this person to request a 504 meeting and a list of the documentation you will need to provide to the school. This may be as simple as a one-page form that the school provides for the doctor to state the diagnosis and explain how it may impact your child in school.

You will need to prepare for the meeting, as hypersomnia is an uncommon disorder that school personnel may not understand. Provide a very simple and succinct description of hypersomnia and the specific symptoms your child experiences. Also be ready to explain, or have your child prepared to explain, how these symptoms have an impact on your child’s ability to learn, concentrate, take notes, study, complete classwork/homework, take quizzes and tests, and so on.

Most importantly, prepare a list of accommodations that you would like to request to help your child have equal access to learning in the school setting. An upcoming article in this series will provide more details about specific accommodations to consider. One example is for your child to receive copies of the teachers’ class notes or presentations, as mental fogginess may make it difficult for your child to take notes in class.

The key to developing appropriate accommodations is to determine ways in which your child is unable to perform at the level of his or her peers without such accommodations. If hypersomnia has no apparent educational impact (e.g., lower grades on tests due to the inability to stay alert and take good notes in class), the law prohibits the development of accommodations under a 504 plan. Accommodations are created to level the playing field, but they cannot provide an advantage that is not available to other students. Accommodations also do not maximize potential, so a “B student” performing at the level of his or her peers cannot get accommodations for the sole purpose of earning an A.

During the course of the 504 meeting, the entire team of participants will work together to develop accommodations that will work. These are documented in a formal 504 plan that is signed by all team members. It goes into effect immediately, and school personnel must provide the accommodations under federal law. The 504 plan is reviewed annually. If any new concerns arise before then, an amendment meeting may be called at any time to discuss accommodations for new symptoms or additional diagnoses.

Keep a copy of the most recent 504 plan and check in with your child to ensure that it is being followed. If there are any problems with implementation, contact the teacher first. If not resolved, contact the 504 coordinator and follow up to be sure the plan is followed.

Kate Pece is an independent educational consultant and former 504 coordinator in Atlanta, GA. She provides services to families seeking advice about and help pursuing public school accommodations, as well as coaching services and academic support to students with and without disabilities. You may reach her at Kate@KatePeceConsulting.com or learn more about her services at www.KatePeceConsulting.com

Posted in: Education, idiopathic hypersomna

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We Sold Out!

We Sold Out!

The Hypersomnia Foundation is extending heartfelt appreciation to the Hypersomnia Foundation community for the huge success of the 2015 Hypersomnia Foundation Conference, Building Our Future Together.  Thank you to all the people with hypersomnia and all of their supporters who attended this year’s conference.  This year’s conference theme was selected to support the members of our hypersomnia community by Building Our Future Together.  A BIG thank you to all of our wonderful volunteers.  We could not have held this event without all of your help and support.  You all worked so hard in support of this event, and its success is due entirely to your efforts.

Thank you to our three amazing Keynote speakers, Dr. Isabelle Arnulf, Dr. Lynn Marie Trotti, and Dr. David Rye.  We all learned so much from your expertise.  To our breakout session speakers, we send you our deep appreciation.  Attendees were excitedly sharing what they learned in your sessions with others throughout the day.   To our Medical Advisory Board members who attended and facilitated sessions at the conference, we greatly appreciate all you do to support the Hypersomnia Foundation and the hypersomnia community.

Congratulations to all of our award recipients!  We greatly appreciate each and every one of you, and we are so proud of all you have accomplished this year!

  • Hypersomnia Foundation 2015 Awareness Award: Dr. Sanjay Gupta
  • Hypersomnia Foundation 2015 Researcher of the Year: Dr. Lynn Marie Trotti
  • Hypersomnia Foundation 2015 Volunteer of the Year: Diana Kimmel
  • Hypersomnia Foundation 2015 Advocate of the Year: Beth Boyce
  • Hypersomnia Foundation 2015 Supporter of the Year: Michael Sparace

Thank you to all of our 2015 Hypersomnia Foundation Conference sponsors, donors, and scholarship angels.  Without your support, we could not have facilitated such a wonderful event for our community!

Gold Level Sponsors:

  • Arise
  • Flamel Technologies
Silver Level Sponsors:
  • Pavilion Pharmacy
  • Emory Woodruff Health Sciences Center

 

The 2015 Hypersomnia Foundation Conference, Building Our Future Together, was completely SOLD OUT!  We had over 245 attendees spanning 4 countries and 28 states.  We had people with hypersomnia, supporters, medical professionals, attorneys, scientists, educators, advocates, and researchers in attendance this year.  We had two Physician Round Table sessions filled with physicians from across the country, all talking about hypersomnia.  It was an exciting day filled with learning, sharing, collaborating, and networking.  Take a look at some of the pictures and a video from the conference below.

 

dr-arnulf-keynote-speaker-at-2015-hypersomnia-foundation-conference2015-hypersomnia-foundation-conference-opening-session
2015-hypersomnia-foundation-conference-pajama-party-young-adults-and-rye
                 2015-hypersomnia-foundation-conference-registration

2015-hypersomnia-foundation-conference-board-members-and-volunteer-manager

 Watch the 2015 Hypersomnia Foundation Conference Video Below!

Take the Flumazenil Shortage Impact Survey!

The Hypersomnia Foundation is documenting the effects of this medication shortage on the hypersomnia community. If you have been prescribed flumazenil, please respond to the survey. Your responses will be anonymously tallied and used to inform the public and those in the medical and pharmaceutical industries of the effects of such a shortage on the lives of those diagnosed with hypersomnia.

Take the Survey Here

 

We Want Your Feedback!

If you attended the 2015 Hypersomnia Foundation Conference, please complete this survey to give us feedback on how we did.

https://www.surveymonkey.com/s/HFConference2015

If you did not attend the 2015 Hypersomnia Foundation Conference, we want to know why.  Please complete this survey to let us know.

https://www.surveymonkey.com/s/GXKZ5P5

Posted in: Awareness, Conference, Education, idiopathic hypersomna

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Education, Awareness & Friendship

Education, Awareness & Friendship

Education Awareness and Friendship

 

There is nothing more affirming than walking into a room of people who immediately understand what your life is like and what you have been going through on a daily basis.  The 2015 Hypersomnia Foundation Conference, Building Our Future Together, is only 2 short weeks away and we are so excited to see you all in person.  This conference facilitates hypersomnia education, awareness, and friendship by giving you the opportunity to connect with others who are sharing your journey.   It is not too late to get your conference ticket online so be sure to register today!  Here are a few important dates to keep in mind:

  • 07/03/15 is the last day to purchase aquarium tickets which includes transportation for $55.00
  • 07/15/15 is the last day to purchase conference tickets on-line for $209.00
  • 07/17/15 – 07/18/15 At the Door conference tickets will be available at the registration table for $229.00
  • 07/15/15 is the last day to purchase Pajama Party tickets on-line for $50.00
  • 07/17/15 – 07/18/15 At the Door Pajama Party tickets will be available at the registration table for $50.00, as long as supplies are available.

 

Ask the Conference Committee SnoozeTV

 

If you were able to catch the last episode of SnoozeTV, you heard our BIG announcement already.  If you missed it, you can view the archive recording here.  On this episode of SnoozeTV, you had the opportunity to “Ask the Conference Committee” and you asked some great questions about the conference!  As you are making your final preparations for your trip to Atlanta, be sure to play this SnoozeTV episode as you will get lots of helpful hints and inside conference information.

 

Download the 2015 Hypersomnia Foundation Conference App

 

The BIG announcement we made on the last episode of SnoozeTV was that of the release of our 2015 Hypersomnia Foundation Conference App.  Download our app and begin planning your conference day by reading the session descriptions and speaker bios.  Discover the sessions you want to attend throughout the day and mark them as your favorites in the app.  Whether you have an Android device, iOS device, or a Windows device, we have an app version that is compatible with your smart device.  Click on the most appropriate link below to download the app and then watch the short video tutorial below to discover the best features of our conference app and how to use them.

Download the iOS App here

Download the Android App here

Download the Windows App here

You Asked, We Responded:
Will Conference Sessions be Recorded?

Some community members have taken to social media to express their desire for the Hypersomnia Foundation to make a recording of the conference available online or through other electronic means.

We would if we could, but we can’t, so we won’t.  Several of our speakers are in the midst of very important hypersomnia research projects, and we are so pleased that they have agreed to take the time out of their busy schedules to share their latest findings with us at the conference.  However, because of the fact that disclosure of data before publication may preclude them from actually having their research results published in peer-reviewed journals and the possibility that information can be taken out of context, they have asked that we not allow photographs to be taken of their slides nor audio- or videotaping at the conference.

Since the Hypersomnia Foundation and the entire hypersomnia community want our speakers to be able to publish the results of their research in peer-reviewed journals, it is imperative that we all adhere to their dictum in order to protect their ability to publish their results.  Importantly, we want to be able to hold another conference and have these presenters agree to return, so their work cannot be compromised in any way at the conference.  Therefore, the Hypersomnia Foundation will not be able to record or otherwise share conference sessions on-line, nor will we be able to allow attendees to use recording devices, photography, video, or audio–at the conference.

While this is disappointing news for people who would like to be able to attend the conference but are unable to do so and as well for those attending, the Hypersomnia Foundation has put together a plan to share as much information as possible with as many people as possible in a manner that honors our speakers wishes and allows us the broadest dissemination possible:

  1. We will have several science/medical writers attending the conference and we will ask some of them to take notes to share with the hypersomnia community through future issues of SomnusNooze.
  2. For those speakers who are willing to allow us to do so, we will upload their approved slides to our website after the conference.
  3. Finally, some of the conference speakers will be guests on Snooze TV later this year, meaning that not only will you be able to watch Snooze TV live (or as archives on-line), but you will be able to interact and ask questions during the live broadcast.  Obviously these speakers will not be able to share their research findings on Snooze TV, but they will be able to update all of us on published results and give us an overview of their current projects.

Now Accepting Silent Auction Donations

Do you or a loved one have a vacation home?  If so, consider offering a week or a weekend up for the silent auction!  Have something else in mind to offer for the silent auction?  Participating in the silent auction is another way to support the Hypersomnia Foundation.  Is it your way?  If this opportunity interests you, please email conference@hypersomniafoundation.org and let us know.

 

Building Our Future Together

Excitement is growing as this conference is the biggest event in Hypersomnia Foundation history.   We look forward to seeing all of you in person at the conference in a few short weeks as we continue to build our future together.

 

 

Posted in: Awareness, Conference, Education

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45 Days…Are YOU Ready?

45 Days…Are YOU Ready?

45-days-are-you-ready

With the 2015 Hypersomnia Foundation Conference right around the corner, we thought we would send you 5 tips to help you make the most of your conference experience.

Tip #1: Be Informed

We are only 45 days away from the 2015 Hypersomnia Foundation Conference and we have already exceeded the number of attendees from last year’s Hypersomnia Conference!  Did you know there are attendees coming from more than 28 states across the nation?  We also have international attendees coming in from Canada, as well as presenters traveling from France and Hawaii.  Whether you are a young adult with hypersomnia between the ages of 16-23, or a mature adult with hypersomnia over the age of 56, you will find a welcoming group of people, just like you, attending this year’s conference.  Thanks to several generous anonymous donors, we have even been able to offer 15 scholarship tickets to this year’s conference.  Support for the Hypersomnia Foundation has never been stronger!  This year’s two social events, the trip to the Georgia Aquarium and the Pajama Party (tickets sold separately) give you the opportunity to connect with people who live in your region of the country.

2015 HFConference Attendee Map

**Each dot on the map above represents a city from which tickets have been purchased.  Multiple tickets may have been purchased from each city.

Tip #2: Ask the Conference Committee

You’ve got questions and we’ve got answers!  Submit all of your conference questions here and then tune into SnoozeTV on Friday June 12, 2015, to hear us answer your questions live on the air. We will make a BIG announcement during this episode of SnoozeTV so don’t miss it!

Tip #3: Download your Savings in the City Card

Enjoy exclusive deals during your time in Atlanta. Whether you are interested in shopping, visiting local attractions, saving on dining or transportation, all you need to do is present this card at participating partners to start saving.  Simply print this card before you arrive, and then show your card at participating establishments to receive the discount offered. Who knows, you might want to stay an extra day to experience all that Atlanta has to offer!  Download your card today!

Tip #4: Make Your Arrangements

  • Buy your conference ticket: July 15, 2015 is your LAST day to purchase a conference ticket online.  After that date, you will need to purchase your conference ticket at the registration table.  The last day to purchase a ticket to the Georgia Aquarium trip is July 3, 2015, as we must submit the total group number to the aquarium on this date.  The last day to purchase a ticket to the Pajama Party is July 15, 2015, or until tickets sell out, whichever comes sooner.
  • Reserve your hotel room: June 25, 2015 is your LAST day to reserve your room at the $109 rate, as long as space is available.
  • Arrange your transportation
    • FREE parking is available in a parking deck, at the conference venue.  If you are looking for transportation from Hartsfield Jackson Airport, Atlanta Superior Shuttle operates from Stalls Green 5&6 at the airport.  It costs $50.00 per person, roundtrip from the airport to the Emory Conference Center Hotel.  For reservations, please call (770) 457-4794.
  • Sign-up to be a conference volunteer
  • Check out Emory Pointe: a special destination for shopping, dining, or pharmacy needs within walking distance of the hotel.  This is a great place to keep in mind if you are coming in before the conference or staying after the conference.  A great place to meet with your friends, grab a bite to eat, or even pick up that item you forgot at home!

 Tip #5: Save Room in Your Suitcase!

Whether you are planning to enter the pajama contest or planning to bid on an item in the silent auction, you will want to save some room in your suitcase.

Some of the silent auction items include:

You may bid on items in the silent auction using the number on the back of your name badge.  100% of the proceeds from the silent auction go directly to the Hypersomnia Foundation.

Some R’ & R’ after the Conference!

Join us for a Pajama Party Saturday evening after the conference!  Come join your friends for cosmic bowling, pool tables, shuffle board, video gaming station, and hanging out in a fabulous lounge area.  There will be a pajama contest with prizes awarded in the following categories:

  • most creative pajamas
  • most comfy pajamas
  • most colorful pajamas
  • pajamas that raise the most awareness about hypersomnia
  • pajamas that show the most overall hypersomnia support

Remember while we are kicking back in our PJs that ALL pajamas must be non-offensive, respectful and appropriately modest. This event will take place at the conference venue location, in Wisteria Lanes, after dinner from 7:00 pm – 10:00 pm and tickets are sold separately.  Tickets for this event are limited, so be sure to get your ticket today!

The conference is only 45 days away.  Remember to submit all of your conference questions here and then tune into SnoozeTV on Friday June 12, 2015, to hear us answer your questions live on the air. We will make a BIG announcement during this episode of SnoozeTV so don’t miss it!  In the meanwhile, feel free to email the conference committee directly at conference@hypersomniafoundation.org if you have any questions or concerns.  Excitement is growing, and we look forward to Building our Future Together!  

Posted in: Awareness, Education, idiopathic hypersomna, Kleine-Levin syndrome, narcolepsy

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In need of a support group? Why not start your own?

Snooze TV How to Start a Support Group

 

Don’t miss the fourth episode of Snooze TV, a live Google Hangout on Air video broadcast hosted by the Hypersomnia Foundation on Friday May 8, 2015, at 8:00 pm, EST. This month’s guest panel features support group leaders and experts from all across the United States.  Simply sit back and watch, or participate in this lively discussion and ask questions of our guest panelists.

To watch Snooze TV, just click here or go to the Hypersomnia Foundation web site and click on Snooze TV on the MEETINGS AND EVENTS pageIf you want to take part in the discussion and pose questions to our guest panel, however, you must create a Google+ account ahead of time and view the show live on the Hypersomnia Foundation’s Google+ Event Page. Signing up for a Google+ account is free and easy—click here to see how. Once you’ve created a Google+ account, sign in on Friday evening and join us for the fourth edition of Snooze TV.

If you miss a live episode, don’t worry, you can always catch it in the archives on our website or subscribe to our YouTube channel. We look forward to sharing some fun and informative episodes of Snooze TV with you this year! Join us live on Friday, May 8, 2015, at 8:00 pm, EST, and the second Friday of every month throughout 2015 as we discuss other sleep-related topics.

Posted in: Education, SnoozeTV

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