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.

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.

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.