Hypersomnia Foundation

Posts Tagged 'BeyondSleepy'

2017 #BeyondSleepy in Boston

Hypersomnia Foundation Regional Conference on June 4th

The Hypersomnia Foundation (HF) board is finalizing the program for its 2017 Boston Regional Conference. We will provide Eventbrite registration details in the near future via Facebook, Twitter and Somnusnooze.

Information below will help you begin making your travel plans to Boston. Read to the bottom for information on special hotel accommodations!


Conference Schedule (As always, social activities are optional):

Saturday – June 3

  • 2:00-4:00PM-Old Town Trolley Tour https://www.trolleytours.com/boston#home-section  
  • Survey responders voted the trolley tour #1 choice for our Saturday afternoon activity.  Sit back, relax and discover all that Boston has to offer by means of this sightseeing tour!  Group booking arrangements will be available through our Eventbrite once it is live, and we anticipate the per person rate will not exceed $36.00 (seating will be limited).
  • 7:30PM – Meet and Greet Game Night
  • Enjoy a casual meet and greet with light snacks and games hosted by the HF Board at the Residence Inn Boston Harbor on Tudor Wharf.This event is FREE but you will need to register once our Eventbrite is live.

Sunday-June 4

  • 1:00-4:30PM – HF Regional Conference at the historic Boston Public Library at Copley Square, 700 Boylston St., Boston, MA 02116
  • We have booked Rabb Lecture Hall in the newly renovated Johnson Building at the Boston Public Library for another fabulous regional conference featuring dynamic speakers.In this state-of-the-art facility, our outstanding speakers will cover research updates on idiopathic hypersomnia and related disorders. This year’s conference, however, will also focus on advocacy and empowerment to assist people with hypersomnia and their supporters navigate this world living with a chronic, rare disorder.

COST OF CONFERENCE ATTENDANCE - We understand Boston can be pricey. With this in mind, we have been hard at work negotiating the perfect location and space for our conference. The stars aligned and this year attendance to this event will be FREE!
Due to limited space you will need to register for the conference once the Eventbrite is live.

At this moment we are not 100% certain that Livestreaming the event will be possible, but are working diligently to identify sponsorship to help cover AV and Livestreaming costs. Watch for updates.

Hotel Accommodations – For Saturday night, June 3rd, The Residence Inn Boston Harbor on Tudor Wharf has offered a special group rate of $289.00 USD per night (plus tax) for a studio suite.   All rooms include complimentary breakfast and in-room high-speed internet access.  These discounted rooms are limited and we cannot stress enough to book early!

This Residence Inn has generously agreed to offer this same rate for a limited number of rooms for Friday (June 2) and Sunday (June 4) nights as well.

To make a reservation guests can either call 800-331-3131 to the central reservation team (be sure to mention the Hypersomnia Foundation room block) or book online through this link:

Book your group rate for Hypersomnia Foundation

With specific hotel questions please contact Dory Noll at the Residence Inn,
at 617-933-5313 and she will be happy to assist you.

Details about registration for the Saturday trolley tour and the meet and greet, as well as for Sunday’s Regional Conference will be highlighted in a future SomnusNooze once program details have been finalized.

We look forward to connecting with everyone in Boston!

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Passing the Torch

Passing the Torch

Changing Roles at Hypersomnia Foundation

Catherine Friedrich Murray, one of the founders of the Hypersomnia Foundation, will step down from the Foundation’s Board of Directors when her term of office concludes on January 18, 2017. The Board of Directors has elected Diane Powell to assume Cate’s position as Chair. Diane, who has been a member of the Board since October 2015, says “I feel so fortunate to have had Cate’s example and her wisdom to prepare for this change. She has always been a great source of inspiration, and I know that we can always reach out to her for advice for the Hypersomnia Foundation.”

Ms. Powell, who is a licensed clinical social worker, has worked on fundraising for the Hypersomnia Foundation, including the recent “Let’s Get #BeyondSleepy” campaign, the most successful in the Foundation’s history. She is also a facilitator and liaison with the Foundation’s People with Hypersomnia and Advocates Advisory Council (PAAC), with whom the Board consults regarding the priorities and needs of the hypersomnia community.

Ms. Murray has pledged her continuing support of the Hypersomnia Foundation and recalls with great fondness the first conversation that she had with David and Cat Rye about starting the organization: “I had enjoyed my work with Dr. Rye when I was the executive director of the Restless Legs Syndrome Foundation. When he called me out of the blue almost four years ago and asked for my help, I was taken aback. Who could possibly have leaked the news that my daughter had been diagnosed with idiopathic hypersomnia just a few weeks before? But, of course he didn’t know. It was simply serendipity.”

“The past three years have been exciting, challenging, and so rewarding, as we have touched countless lives, educated physicians mom2and scientists, and helped people to understand that they are not alone in their struggles with hypersomnia. Of all that we have accomplished as an organization, and that list is long, I am most proud of the incredible research tool that I played a small part in launching, the Hypersomnia Foundation’s Registry at CoRDS. More than 500 members of the hypersomnia community have generously contributed their valuable information, and I firmly believe that this registry will change the face of hypersomnia and of hypersomnia research for decades to come.”

“There is so much work yet to do, but I rest assured knowing that the Hypersomnia Foundation is in very capable hands. I look forward to greeting old and making new friends at the regional conference in Boston in June. As I concentrate on finishing my masters in nonprofit leadership, I will never be more than a phone call or email message away.”

New Board Members

The Hypersomnia Foundation is thrilled to announce the election of two new members of the Board of Directors.

Michelle Emrich is an internal medicine physician who gave up her cherished career after being diagnosed with severe idiopathic hypersomnia in 2011. She is passionate about raising awareness of and research funds to study the primary hypersomnias and, after recently serving on the Hypersomnia Foundation’s PAAC, is excited to begin serving on the Board of Directors.

Amy Haraden is a long-time supporter of and volunteer for the Hypersomnia Foundation and is delighted to expand her role to serve as a member of the Board of Directors. Prior to being elected to the Board, she was one of the founders of the PAAC and volunteered on the Council since its inception in late 2015. Amy is an accounting analyst at TripAdvisor and a graduate of Stonehill College (BSBA) and Northeastern University (MSA).

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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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Conference Details – Beyond Sleepy in the Mile High City!

Conference rectangle ImageIf you haven’t made your plans yet to attend the Hypersomnia Foundation’s regional conference in Denver—Beyond Sleepy in the Mile High City—you might want to do so today. Tickets are selling fast and seating is limited. The big event is in less than seven weeks! A registration link and additional information are available on the Hypersomnia Foundation website, or you can click on the ticket image below to go straight to the registration site. 

Wondering whether it’s going to be worth the trip to Denver? Well, wonder no longer. Whether you’re flying across country or driving down the mountain, this meeting offers plenty of time to network and socialize in addition to hearing some fantastic speakers. Remember, attending in person is the only way for you to participate in the question-and-answer session with the experts.

tickets 

SCHEDULE OF EVENTS

 Saturday evening, June 11, from 6:00 to 10:00 pm—Join us in the Atrium Alcove on the talkingfourth floor of the Embassy Suites Hotel 1420 Stout Street, Denver, CO. Catch up with old friends and meet new people as we play board and card games or just spend some time in conversation.

Sunday morning, June 12, from 7:30 to 10:30 am—Join us for a hot made-to-order breakfast at the Embassy Suites Hotel and grab a spot at one of the tables we will have reserved. Don’t worry if you’re not up at 7:30; we’ll save you a place to join us later. (Breakfast is free if you are a guest at the Embassy Suites Hotel and $20 if you are not).

Sunday morning from 10:00 am to noon—Join us to pick up your name badge at registration on the third floor in the Crestone foyer at the Embassy Suites Hotel. Didn’t have enough time to socialize on Saturday evening? We will have a designated gathering space available during this time. Be sure to eat before coming to the conference. We will not be serving lunch.

Sunday afternoon from noon to 5 pm—Join us in the Crestone Salon B meeting room on the third floor of the Embassy Suites to hear six scientific presentations covering the latest on hypersomnia research and how to cope with hypersomnia through the use of behavioral sleep medicine, as well as other fabulous topics. Listed below are the speakers and their topics.

 SPEAKERS AND TOPICS

Isabelle Arnulf, MD

Double-blind drug studies in France to treat idiopathic hypersomnia

Richard Bogan, MD

The long and winding road from drug discovery to FDA approval: participating in clinical trials

Michel Lecendreux, MD

What does hypersomnolence look like in children and adolescents?

Jason Ong, PhD

How to live with hypersomnia today: incorporating behavioral sleep medicine in the treatment of central disorders of hypersomnolence

David Rye, MD, PhD

What are the latest developments in research on idiopathic hypersomnia?

Lynn Marie Trotti, MD, MSc

Information is power! Contributing to the Registry of Central Disorders of Hypersomnolence at CoRDS

Q&A

Available only to those who attend the meeting in person. We will not be streaming this portion of the program.

As of today, rooms are still available at the Embassy Suites Hotel, 1420 Stout Street, Denver, CO. Call 303.592.1000 or go on line to www.denverdowntown.embassysuites.com to reserve your room.

Copy the following link onto your browser to see where this fabulous conference will be held http://www.hilton.com/en/hotels/content/DENESES/media/pdf/en_DENESES_denesmeetings.pdf

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

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Put Your Napping Skills to Work and Win Prizes!

If, like me, you have hypersomnia, I’m sure you’re no stranger to napping wherever it’s convenient: in class, at a stoplight, under your desk, in a library, in a corner at the bookshop, at a table in the cafeteria, in an empty conference room… this is the reality for so many of us. Heck, as a child, I mastered napping on the mat outside my shower and nappingeventually transitioned to actually napping IN the shower before school. My mother couldn’t figure out what was taking me so long and why our water bill was so high. (Of course as an environmentally responsible adult, I feel terrible about all of that wasted water.)

Having finely honed our napping skills, we now have the opportunity to put them to great use and win some pretty cool prizes. Arianna Huffington’s Sleep Revolution has launched an Instagram contest called “Where Do You Nap?” To enter, simply:

  • Post a picture on Instagram of your favorite napping spot.
  • Include the contest’s TWO MANDATORY HASHTAGS#SleepRevolution & #Contest.
  •  To help raise awareness of hypersomnia, please also include the hashtag #BeyondSleepy. 

Eighteen people will win Marriott gift cards and a voucher for round-trip travel on Jet Blue. Drawings will take place on various dates, and only legal US residents are eligible to win prizes. To check out all of the rules and more information on prizes and how to enter the contest, visit http://ariannahuffington.com/contest-rules

By Jennie Murray

Posted in: Awareness, BeyondSleepy, Hypersomnia, idiopathic hypersomna, Instagram, Kleine-Levin syndrome, narcolepsy, Social Media, SomnusNooze

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