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July 2015 eNewsletter

JULY 2015


2015 NNPDF 23rd Annual Family Support and Medical  Conference

 

It is only 2 weeks away!  The NNPDF Central Office is just buzzing with excitement as we complete the final details.

“The Winds of Hope are on the Horizon… for our NPD Community”  will most definitely be a conference to remember.

Click here to visit the 2015 NNPDF Family Support and Medical Conference page.

An exciting addition to this year’s conference is the inaugural presentation of Genzyme’s “Expression of Hope Gallery III”. This 25 piece exhibit features works of art created and submitted by community members affected by lysosomal storage disorders (LSD).  The NNPDF Family Support and Medical Conference is honored to be chosen as the first stop for these inspirational and creative pieces of art and are anxious to share these artistic expressions with our NPD family community.  For a preview of the 168 pieces of artwork which were submitted for this project here:  expressionofhope.com

The full press release detailing Genzyme’s “Expression of Hope III” may be found at this link.

The Family Support and Medical Conference will provide families with some exciting updates to clinical trials in support of our NPD Type B and NPD Type C patients.  The foundation staff have worked to ensure that there is a good mix of the urgently needed information and access to resources which our families need, in addition to time for networking and fun!  Friday night will have a sweet ending with a family ice-cream social while the Saturday evening banquet and gala will incorporate a “Red Carpet-esque” feel with some very special guests!!!!  You can dress to the nines ~ or ~ not so much…..but certainly don’t forget to pack your dancing shoes!

If you are planning on extending your trip by arriving early or staying after the conference, you may be interested in planning to sight-see in the area.  Chris Klauer, Family Services and Marketing Coordinator, has developed a helpful “Fun Things to Do” in and around the Chicago area.  This cheat sheet has some great activities and suggestions which include: the activities distance from the hotel, address, some tips and descriptions about the activity and a website link for each one.

You can print off your own cheat sheet here to help prepare for your BIG ADVENTURE in Chicago!

FUN THINGS TO DO IN CHICAGO

Chris will be in attendance at the Chicago meeting and is so looking forward to meeting our NNPDF family membership!

If you have not updated your NNPDF Membership form, please make certain to do that right away!  All NNPDF 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

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.


Equipment Exchange Update

The NNPDF has a wonderful program which offers assistance to our family members who are in need of specialized equipment to care for their loved ones affected by Niemann-Pick Disease or for those who wish to share equipment they are no longer using.

Recently, the NNPDF assisted with the exchange and transportation associated with moving a specialized seizure bed from Texas to Minnesota!  This large task was completed with assistance from W & A Distribution Services of Fort Atkinson.  Lisa at W & A was able to arrange for a semi 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 Minnesota.   This process was done in memory of Stacey Vorpahl (NPC) whose parents, Barb and Gary Vorphal, were founding members of the foundation.  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.

If you are interested in being on either the giving or receiving end of a piece of equipment, please check out our Special Equipment page.  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 and Clinical Trial Updates

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The NNPDF Central received notification of a recent on-line publication highlighting the work of Dr. Melissa Wasserstein, and the invaluable work that she has been doing towards the developement of a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).  In addition, since October of 2014, Dr. Wasserstein’s efforts and patient work tied to a natural history study with ASMD patients at Mt. Sinai, has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF).

An article highlighting the results from the successful patient dose escalation of “Opipudase Alfa” in ASMD was recently published in Elsevier’s Molecular Genetics and Metabolism magazine.

Click here to read the full article:

Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.

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Clinical Research Opportunities for NPC Community Members

At the upcoming Chicago, IL NNPDF Family Support and Medical Conference there will be many opportunities for patients and their families to be involved with assisting researchers to further their understanding of Niemann-Pick Disease.

At this time, the foundation has received 5 requests for patient/family involved research assistance.  These requests go through a rigorous review process to ensure that the background tied to the research is both sound and ethical.  At this time, patients and families in attendance may choose to take part in the following research activities:

  • Newborn Screening Assay ~ Blood Draw Collection (Type B)
  • Patient Reported Outcome (PRO-tool) Project  (Type B)
  • EEG NPC Testing (Type C)
  • Eye Movement Disorder Survey (Type C)
  • Geographical Location Survey (Type C)

More detailed information will be shared with the families attending the conference as it becomes available. The NNPDF is grateful for the ongoing support from the members of our International Scientific Advisory Board (SAB) who assist and guide us with these requests and ongoing efforts.  CLICK HERE to learn more about the NNPDF SAB.

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— Vtesse —

Recent Webinar Update

On July 14, 2015, Vtesse (pharmaceutical firm taking the NIH Cyclodextrin clinical trial forward from Phase I to Phase II & III), provided an opportunity for the NPD Type C community to take part a “town hall webinar”.  Communication is a key commitment which Vtesse has made to the NPC community so as to ensure that all are fully informed of their ongoing efforts.  This “town hall webinar” also solicited feedback from all the participants world-wide as they work to move forward with the clinical trial process for VTS-270 (cyclodextrin) for Niemann-Pick Disease, Type C.  For those who missed the webinar, we have provided a link to the recording of the webinar by Vtesse, as well as access to the PowerPoint slides that were used during the webinar.

Webinar Recording (no longer available)

Click here for 7.15.2015 webinar slides

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Hello NNPDF Families and Friends,

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.

In addition, the NNPDF has been able to work collaboratively with representatives from Genzyme and Evidera (the research consulting firm engaged to oversee this project) who will be on-site to conduct “face-to-face” family and patient interviews at the upcoming 23rd Annual NNPDF Family Support and Medical Conference to be held in Chicago, Illinois ~ Thursday, August 6th thru Sunday, August 9th, 2015.

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


Reminder from Chris Klauer, Family Services & Marketing Coordinator 

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 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:  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.


9 8.16

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

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