Happy Mother's Day from the NNPDF!

Dear Families and Friends,

As we celebrate this special day on Sunday, Niemann-Pick Disease families know that all Mother’s hold an extra special place in our hearts. Our thoughts and our hearts are with you all this Mother’s day.

Cyclodextrin Update - NPC Community Wide Conference Call Friday, May 3rd, 2013

Hello NPC Families and Friends,                                                                     April 30^th, 2013

The National Niemann-Pick Disease Foundation has been informed by Dr. Denny Porter, principal investigator of the NIH/TRND Cyclodextrin Clinical trial that the NIH team has decided to pause the Cyclodextrin clinical trial ~ currently being held at the NIH in Bethesda, Maryland, USA.  The NNPDF will host a NPC community-wide conference call, with Dr. Denny Porter and Dr. Dan Ory as the key speakers, to discuss this and other updates pertaining to the trial.

The NPC Community-Wide call will be held on ~ Friday, May 3rd, 2013 at:

8:30 am PDT; 10:30 am CDT; 11:30 am EDT; 12:30 pm in Argentina and Brazil; 6:30 pm Israel

4:30 pm in UK; 5:30 pm in France, Germany, Holland, Italy, Poland, Spain, Switzerland;

The following items will be addressed during the call:

·         Overview of the issues leading up to the decision to place the current trial into a pause status

·         The plan to continue the NIH Phase 1 clinical trial to evaluate the safety of Cyclodextrin in NPC1  

·         The NIH/TRND Cyclodextrin Clinical Trial team will continue to send additional follow-up correspondence to the NPC community world-wide regarding the protocol and status of same

·         Questions pertaining to the information presented during the call may be e-mailed directly to members of the NIH/TRND team and they will forward along to Drs. Ory and Porter for a response.  nichdnpc1@mail.nih.gov

·         This teleconference will be limited in time and recorded.  A written transcript of the call will be posted and made available to the NPC community.

·         Questions during the call on Friday or resulting from the call can be emailed to: nichdnpc1@mail.nih.gov and will be responded to either on the call, if there is time, or after the call by direct e-mail. In addition, we will create a “Q & A” document resulting from these inquiries which will also be posted and made available to the NPC community.

Listed below are the dial-in conference call instructions:
Toll free/Canada and the United States:      1-800-615-2820

Toll (International Participants):                        1-719-867-0495*

Participant Passcode:                                187670#

*Additional International Toll Free lines are being established and will be posted here prior to Friday’s call.

If you have any questions pertaining to this notification ~ please feel free to e-mail the NNPDF Central Offices at:  nnpdf@nnpdf.org.

Thank you for your kind consideration to this matter.

Nadine M. Hill

NNPDF Executive Director

National Niemann-Pick Disease Foundation

www.nnpdf.org

E-mail:  nhill@nnpdf.org

Phone:  920-563-0930

Orphazyme Announces Proposed Clinical Trial  of rhHSP70 for NPC ~ Apr 19th, 2013 ~

Dear NPD Community, 

Orphazyme, a Danish biotech company, announced its intention to conduct a trial of rhHSP70 as a therapeutic intervention in NPC disease, at a scientific conference in Italy this week (15th-19th April 2013).  

Orphazyme has provided information for patients and families which will be generally available through patient organizations across the world. This information has been issued on the understanding that much has still to be confirmed / agreed by the regulatory authorities, so please be aware that some of the details may change. 

To assist you, we have produced an additional document that summarizes the main points. 

All documents can be found on the NNPDF website's Latest Research and Newsline pages. 

In order to facilitate communication further, Orphazyme intends to launch a web page for the trial and to include a “Frequently Asked Questions” section on the page.  As soon as this information is available, we will share it with you. Further information about Orphazyme can be found on their website:http://www.orphazyme.com/

Running for Rare Disease in Memory of Wylder Laffoon

Dear NPD Familes and Friends,

Running for Rare Diseases, an amateur running team comprised of Genzyme employees, is honoring our precious Wylder Laffoon (05/15/09 - 07/20/12, NPA) by o

ne of their members running in his memory at this years Boston Marathon!

Runner Phil Mederia chose to represent NPD and help to spread awareness, along with his team mates who are working with NORD to promote their project "Promote Early Diagnosis".

We encourage our families and friends to visit their Facebook and "Like" the page to show we stand with Phil and his team for their efforts to spread awareness for rare diseases and honor the memory of Wylder.

Please visit the Newsline page for links and further information.

2013 Peter Pentchev Fellowships Open for Applications

Dear NPD Community,

The NNPDF is now taking applications for 2013 postdoctoral research fellowships examining the biology of Niemann-Pick Type C (NPC) disease.

M.D., Ph. D. and D.V.M. postdoctoral fellows are eligible to apply for funding to improve our understanding of the biology and pathogenesis of NPC disease.  Preference will be given to research projects developing new therapies for NPC and identifying biomarkers of disease activity for diagnosis and clinical trials.

For more information, refer back to the NNPDF Fellowships Page on the web site.

2013 World Rare Disease Day Updates

Dear NPD Community,

In recognition of 2013 World Rare Disease Day, February 28th, the NNPDF would like to provide you with the latest updates to share with friends and family to help raise awareness into Niemann-Pick Diease. We will PERSEVERE in our Quest for a Cure! 

To view: Click Here

NNPDF 21st Annual NNPDF Family Support an Medical Conference!

"Harbor of Hope ~ Believing in Tomorrow!”

Join the family members of the National Niemann-Pick Disease Foundation (NNPDF) for the 21st Annual Family Support and Medical Conference to be held in ~ Baltimore, MD ~ Thursday, August 1st thru Sunday, August 4th, 2013! The family conference offers all in attendance an unmatched opportunity to learn about the latest scientific & research news and information directly from the TOP experts in the field of NPD research, medical care and clinical trials.  In addition, our attendees have an opportunity to network with other families who share similar challenges as they journey on with loved ones diagnosed with Niemann-Pick Disease.

This year the NNPDF is pleased to also be hosting the third meeting of the International Niemann-Pick Disease Alliance (INPDA)! The foundation will welcome INPDA attendees from 16 countries around the WORLD who all have the same focus ~ that we WILL Persevere in our Quest for a CURE for Niemann-Pick Disease! 

The conference will be held at the Sheraton “Inner Harbor” Hotel in Baltimore, Maryland, USA.  You may find more information about the conference on our foundation web site at: http://www.nnpdf.org/familyservices_03.html. 

We will be updating the web pages with more information as it becomes available.  We hope to see many of you at the “Harbor of Hope” in Baltimore, MD this summer.