Tuesday, May 21, 2013

21st Annual Family Support and Medical Conference - UPDATE Conference Registration Packet Available - Details on the First-Time Family Fundraising Contest

Dear Friends and Family,

The Family Support and Medical Conference page has now been updated with a digital copy of the 2013 Family Conference Registration packet, with a hard copy version to follow in the mail shortly.

We are also hosting the First Time Family Fundraising contest again this year. If you win, the NNPDF will cover the room cost for the three nights of the conference! So don't wait to make your hotel reservations if you are in the running to avoid disappointment.

For more information, visit the Family Conference page.

Thursday, May 16, 2013

Letter from Greg Crawford - Dean of Notre Dame College of Science

Dear NPC friends and families,

Below is a letter from Greg Crawford, the Dean of the College of Science at Notre Dame, asking for your help. Greg is preparing for his annual cross-country bike ride. Funds raised from this event will go to the University of Notre Dame Michael, Marcia and Christa Parseghian fund for NPC research.

Dear NP-C family,

For the past three summers, I have dedicated one month to raising awareness and funds for NPC research through cross-country bike rides – Tucson, Ariz., to Notre Dame, Ind., in 2010; Boston, Mass., to Dallas, Tex., in 2011; Boston to Pebble Beach, Calif., in 2012. The rides have generated nearly 100 articles and media clips that highlight Notre Dame’s research in the fight against NPC and our strong partnership with the Ara Parseghian Medical Research Foundation. This summer, I will embark on another ride for the cause. I will be riding from Los Angeles, Calif., to Baltimore, Md., arriving in time for the National Niemann-Pick Disease Foundation 21st Annual Family Support and Medical Conference. This year’s 3,476 miles will bring my four-summer total to more than 11,000 miles. I will start from Los Angeles around July 1. 
Greg Crawford during 2012 
Road to Discovery ride

Each year, I write a daily blog about the ride. This year, I intend to dedicate a portion of my website to a “Parents’ Corner,” and I am requesting the honor of a contribution from you. Please send me a write-up on your child of up to 300 words – what they love, any stories you’d like to share, your child’s favorite activities (games, hobbies, interests, etc.) and your hopes. I would be happy to include a photograph of your child and/or family if you would like. 

Thank you for considering my request. I am so honored to be riding across America again to raise funds and awareness for NPC. I have met so many wonderful children and families over the years, and it is a real honor to ride for you and your family. 

If you wish to send material for the blog, please direct it to the Notre Dame staff – Gregory_Crawford@nd.edu, nhaley@nd.edu, and Stephanie.Purcell.27@nd.edu – no later than June 15. Please include your formal permission to post your statement and photographs publicly on my Notre Dame blog. 

Thank you again, and I hope to see you in Baltimore! 

Yours in Notre Dame, 

Gregory P. Crawford
Dean, College of Science
University of Notre Dame
Notre Dame, Indiana 

Thanks for your support.

Friday, May 10, 2013

Update from Genzyme on ASMD Development Efforts

Dear families and friends,

Genzyme, a Sanofi company, is continuing its efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B). The potential treatment is the enzyme replacement therapy recombinant human acid sphingomyelinase (rhASM); it is being evaluated for the treatment of the non-neurological manifestations of ASMD.

We have also learned that Genzyme and Mount Sainai are recruiting new patients for phase1b of the Enzyme replacement therapy.

To read the full update, please visit the Enzyme Replacement Therapy - Type B page.

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.

Wednesday, May 1, 2013

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

Hello NPC Families and Friends,                                                                     April 30th, 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
E-mail:  nhill@nnpdf.org
Phone:  920-563-0930