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August 2015 eNewsletter

AUGUST 2015


2015 NNPDF 23rd Annual Family Support and Medical  Conference Recap

While the 23rd Annual Family Support and Medical Conference in the “Windy City” of Chicago may be over for 2015, the many activities, advances in treatment and research, accompanied by fond memories which each and every participant will carry home with them will last a lifetime!  “The Winds of Hope are on the Horizon… for our NPD Community”  will definitely be a conference recalled as a time for fostering new friendships, renewing long-time connections, building upon our hope for a brighter future ~ ALL capped off with a true celebration of our loved ones living with Niemann-Pick Disease.

The 2015 NNPDF Annual Family Support and Medical Conference kicked off in the early evening of Thursday, August 6th with family conference registration, welcoming of friends and family ~ including 9 NPD families who were joining us for the first time!  NNPDF Board Chair, Leslie Hughes, welcomed all in attendance and had the honor to introduce the members of the Board who were in attendance!  NNPDF Research Committee Chair, Elissa Miller-Visoky, then introduced each of the members of the NNPDF Scientific Advisory Board (SAB) to the conference attendees. The Foundation’s Board of Director’s took time to speak directly to the Foundation family community and membership as to the specific and concerted role that each volunteer member of the NNPDF Board takes on when they agree to serve on behalf of or in memory of their loved one facing the challenges of NPD.  Overall, the efforts of the Foundation Board is in support of the entire NNPDF community and driven through efforts to meet the established mission, vision, goals and objectives.

Foundation family and membership attendees were delighted to be welcomed to the hotel by the beautiful artwork and gallery display sponsored by Genzyme’s Expression of Hope III.  The NNPDF was honored to be chosen as the first stop on an international route that this artwork will travel over the next year! Many great pieces of art were on hand and all were designed by individuals living with Lysosomal Storage Diseases! We hope that attendees were able to find a quiet moment to stroll through the art gallery but if not you may view the Expression of Hope online gallery via this link.  In addition to the art gallery, conference attendees also received a boxed gift card set of specific art drawings, a delightful art filled notebook and a booklet detailing the background of each piece of art and artist.  These generous and thoughtful attendee gifts were sponsored by our friends at Genzyme.

As the evening progressed, announcements made, introductions completed, and many looked forward to the presentation of the closely held name of the 2015 recipient of the NNPDF Persevere Award.  First presented in 2014 to a well-deserving, Dr. Dan Ory, Nadine Hill, NNPDF Executive Director was honored to be chosen to present the 2015 Persevere Award to Sandra Cowie.  Nadine’s presentation encompassed just a few of the many and varied contributions which Sandy has made to the NNPDF, the CCNNPDF and the entire NPD patient community over the years.

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Persevere Award

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With Sincerest Appreciation and Gratitude for your Compassion and Incredible Dedication in the Fight Against Niemann-Pick Disease

Thank you for Making A Difference!

“Never doubt that a small group of thoughtful, committed people can change the world; indeed, it is the only thing that has”

2nd Annual Persevere Award Presentation Speech
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A new feature to the Thursday evening Welcome Reception was the opportunity to break out into groups by disease type (ASMD (NPD A/B), NPC and NPC late-onset) so that families were able to introduce themselves to one another, connect names with faces and make plans to meet throughout the weekend to share experiences and develop further support networks.  To bring Thursday evening to a close, the families gather as a united community to view the 2015 NNPDF Memorial Video which highlights those loved ones lost to the ravages of NPD since we last gathered in 2014 at the San Francisco, California Family Conference.  We were so fortunate to be joined by Kate Devries of LaGrange, Illinois and a dear friend of the Angela Donegan family, who shared her wonderful singing and guitar playing talent with us for the memorial segment of the evening.  Her beautiful singing voice added a distinctive and well-appreciated touch to the lighting of the memorial candles and the pensive memorial video.  Heartfelt thanks to all who helped to ensure that this was a special moment for all.

2015 Family Conference Memorial Video

The 2015 Family Support and Medical Conference Agenda not only brings our attendees the latest research findings, medical and clinical therapies but it also provides those in attendance with ample opportunities to be active participants, present insightful questions and network with members of the NNPDF Board, Scientists, Researchers and other families dealing with similar situations.

2015 Family Conference Agenda

2015 Family Conference Photos

It wouldn’t be a NNPDF Family Conference Recap without highlighting some of the highlights and fun experienced by ALL in the Child-Care/Activity Room (CAR).  The oversight and management of this complimentary service offered to the NPD family membership throughout the weekend is expertly managed by Jim and Missy Ward and family friend, Andy Schroeder of New Orleans, Louisiana!  This year the foundation was pleased to welcome, Cora Sterling of Winter Park, Florida, to assist with the organized chaos and excitement.  The CAR theme of “Super Heroes” was woven throughout the activities which included:  puppetry, songs, story-telling, crafts, building projects and MORE!

After a LONG day of clinical trial and medical therapy updates for both our NPC and ASMD family membership, the day was capped off with a “Sweet Treat”!  Representatives from Vtesse, Inc. hosted an “Ice-Cream Social” after dinner for all in attendance.  As luck would have it, we also had the opportunity to celebrate a “Sweet 16 Birthday” for Hayley Koujaian!  Not to mention:  CAKE!

Then of course after a full day of interactions with researchers, scientists and family specific breakout sessions……all in attendance gathered for the long anticipated Saturday evening Dinner/Dance & GALA!!!  The Loews Chicago O’Hare Hotel staff were ready to help us get our party started!  All guests were met by Olaf from Frozen and a Minion!  Each family and groups of friends had the opportunity to walk the “Red Carpet”, be peppered by the paparazzi and have their photos taken.  The children were thrilled when Olaf and Minion ended their engagement for the evening with their own dance rendition to “Pharrell Williams, “Happy”!  We can all attest to the happiness that spread throughout the room!

After a delicious dinner, the families enjoyed a wonderful puppet show directed by Cora Sterling with supporting roles filled by the attendees and volunteers from the Child-Care/Activity Room (CAR).  It must be noted that there is more than ONE starlet and actor who are sure to arise from this effort!  The conferences traditional “Singing in the Rain” song and dance event was overseen by Evan & Paul Hill with all of the children and young adults assisting with this fun activity!

More family photos and conference pictures are arriving at the NNPDF Central offices and we welcome and encourage families to forward these along.  The NNPDF Central Offices will be creating a slide show of all the photos, which we will incorporate onto the Family Conference 2015 Recap web pages ~ follow this link for updates.  2015 Family Conference

For those who weren’t able to attend the Chicago Family Conference, or if you were in attendance but wish to revisit some of the presentations, the foundation did receive sponsorship to record the sessions offered to the NPC membership on Thursday morning (Clinical Trial Updates) and the afternoon drug development “101” and clinical trial participation “101” sessions offered on Friday afternoon.  The NNPDF staff are currently reviewing these videos prior to posting on the foundation web site. Once we have obtained all of the appropriate permission to post these videos ~ we will further advise the community.  Scientific research updates typically are not posted or made widely available until the information is published.

Thank you to all who were able to attend and participate in the 23rd Annual Family Support and Medical Conference.  Each and every participant and all of our cherished volunteers ensured that this year’s conference was a wonderful event!  All came away with an infusion of HOPE as we continue to Persevere in our Quest for a Cure!


Equipment Exchange Update

The NNPDF is pleased to share information about a wonderful program, NNPDF Equipment Exchange Program, which offers assistance to our family members who are in need of specialized medical/care equipment to care for their loved one(s) affected by Niemann-Pick Disease or for those families who wish to share equipment that they no longer have a use for.

Recently, the NNPDF Central Office Staff assisted with the exchange and transportation associated with moving of a specialized seizure bed from the Tracy and Derrick Lindsey NPC Family residing in Arlington, Texas to another NPC family living in St. Paul, Minnesota!  Tracy and Derrick had generously offered this piece of equipment in memory of their beautiful little ray of sunshine, Tristan, who passed away earlier this year from NPC at the tender age of 12 years. This large task was completed with assistance from W & A Distribution Services of Fort Atkinson.  Lisa Smithback of W & A, was able to arrange for an over-the-road semi-truck to pick the bed up in Texas and transport it to Fort Atkinson, Wisconsin ~ the home offices of the NNPDF.  Another semi was able to get the bed from Fort Atkinson to its new home in Minnesota.   The support of W & A transportation was offered in memory of Stacey Vorpahl (NPC) whose parents, Barb and Gary Vorphal, were founding members of the NNPDF and reside in the city of Fort Atkinson, Wisconsin.  The NNPDF, as well as both families involved, cannot thank W & A enough for their kind assistance and generosity in helping us to see this project through.

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Tristan Nycole Lindsey
04/09/02 – 03/24/15 (NPC)

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The specialized seizure bed was delivered and set up for Mason (NPC) to be able to use from now on!  His parents are so happy to be able to have a safe place for Mason to sleep, have buddy time with his younger brothers and to be able to rest with a bit more peace of mind!

If you are interested in being on either the giving or receiving end of a piece of equipment, please check out our Special Equipment and Resources Page at  nnpdf.org/family-services/equipment/.  You will find an Equipment Donation/Request Form that needs to be filled out, as well as details outlining the program.

If you need assistance, please contact Chris Klauer, Family Services & Marketing Coordinator at:  nnpdf@nnpdf.org or toll free at 877-287-3672.


Research & Clinical Trial Updates
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— VTESSE —

Vtesse, Inc. Announces Preliminary Data from Ongoing Phase 1 Study of VTS-270 for Treatment of Niemann-Pick Disease Type C

Dateline: August 6th, 2015: The NNPDF Central Offices are pleased to share with our NPC community that Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Preliminary analyses, conducted post-hoc, suggest that the rate of disease progression had slowed down (based on a standardized measure) in children treated with VTS-270 in the Phase 1 trial as compared to the rate in an age- and disease severity-matched cohort obtained from a separate natural history study of NPC patients. The analyses also show that children treated with VTS-270 demonstrated improvement on several disease domains.

Full Press Release

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51 and Done! NPC Pediatric Clinical Trial

FUTURE RECRUITMENT

At the 23rd Annual NNPDF Family Support and Medical Conference the attached information below was discussed and “51 and Done!” buttons were distributed to our NPC Community.

This important NPC community alignment, to provide support for the NIH’s Phase I Cyclodextrin trial, is vital for the NPC community.  The attached letter that was signed by the National Niemann-Pick Disease Foundation, Ara Parseghian Medical Research Foundation, Hide & Seek Foundation, as well as Dana’s Angels Research Trust and we ask that you review it and add your support to this important communication.

Vtesse has worked very hard to get the protocol agreed upon by the United Stated Food and Drug Administration (FDA) and the European Medicines Agency (EMA), which the letter explains very clearly. Enclosed you will also find the Press Release from Vtesse that explains their findings from the ongoing Phase 1 Study. “51 and Done!” represents the number of patients needed worldwide to enroll and participate in this clinical trial. You can be a part of this by raising awareness!  If you would like a button with the logo “51 and Done!” on it just email the NNPDF office at nnpdf@nnpdf.org and we can send it out to you.

In closing we just ask you to remember a quote form Helen Keller “Alone We Can Do So Little, Together We Can Do So Much”.

51 and Done! Campaign Information

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— GENZYME —

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
US Investigational Site Now Open for Recruitment
August 6th, 2015

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ALERT: United States NPD Type B Families & Friends

The NNPDF central office noted today that the first investigational site for Genzyme’s Acid Sphingomyelinase Deficiency (ASMD) Pediatric Trial has been updated and is now actively recruiting pediatric patients at the approved clinical trial center in New York, NY.

Families should follow enrollment criteria as provided on the clinicaltrials.gov page. To view these criteria, location details and for additional contact information please visit clinicaltrials.gov and refer to study reference number: NCT02292654

The title of the pediatric Phase 1/2 trial is listed as: Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency.

The ERT pediatric clinical trial site for the United States has been established at Mount Sinai Hospital in New York under the direction of Dr. Melissa Wasserstein and will begin recruiting for pediatric patients diagnosed with ASMD (NPD Type B) within the age ranges listed below:

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Sanofi provided in the clinicaltrials.gov clinical trial information page.

Click here to read the letter recently sent out to families from the
NNPDF Offices regarding recent Genzyme updates.

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— GENZYME —

The NNPDF is pleased to announce to our Niemann-Pick Type B (ASMD) patient community a new “Qualitative Research Phase” titled: Patient Reported Outcome (PRO) sponsored by Genzyme. Patient-Reported-Outcome (PRO) instruments are measures self-reported by patients, about disease symptoms and impact, as well as impact of treatment. Please review the attached announcement which further details the patient interview study and the essential component this information plays in support of the entire ASMD community.

If you did not get a chance to sign up for an interview at the conference or were unable to attend you can still sign up and help support the ASMD community.  You can contact an interviewer by calling the following phone numbers:  US/Canada toll free number:  1-800-257-3157 and UK toll free number: 0800-088-5390.

Please follow this link to read the full Genzyme announcement: Click here to read the full press release


Reminders from Chris Klauer, Family Services & Marketing Coordinator 

If you have not updated your NNPDF Membership form, please make sure to do that right away!  All Members are being asked to update their information to ensure that you are receiving all of our communications.

Once you read the instructions below please go to our Online Membership Form and submit your information today!

When you click on the link a new page will open.  Please choose your category:

  1. Immediate Family Member of someone diagnosed with Niemann-Pick Disease
  2. Extended Family Member of someone diagnosed with Niemann-Pick Disease
  3. Community Support/Family Friend of someone diagnosed with Niemann-Pick Disease
  4. Click CHECK OUT~ you will NOT be charged for this it is free!  We are simply updating our records.

A new page will open that has the same information on it as the membership form you completed when you joined the National Niemann-Pick Disease Foundation.


Niemann-Pick Awareness Facebook Page

Interested in staying connected with news and efforts tied to the work of the NNPDF?  Then be certain to “Like” us on FaceBook!  Simply locate the Niemann-Pick Disease Awareness Facebook Page at NNPDF Facebook Page and/or NNPDF Awareness Group, and like us!  On Monday of each week, we highlight NPD family membership Fundraising and Awareness events and end the week on Friday with helpful tips and resources for our families facing the day-to-day challenges of caring for a loved one affected by Niemann-Pick Disease.

We have found that these two weekly updates provide both inspiration and an extra resources for our family members.  If you missed an update you can always find them all recapped on the NNPDF website at:  www.nnpdf.org.  We also welcome and are thankful to receive tips and input from our families with regards to resources that you have utilized and found helpful.  Please share these with Chris Klauer at: nnpdf@nnpdf.org.  


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PO Box 49, Fort Atkinson, WI 53538-0049
Phone: 920-563-0930  |  Toll Free: 877-287-3672
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