Friday, February 28, 2014

Request for Applications ~ 2014 NNPDF Research Fellowships

Dear Families and Friends,

In support of World Rare Disease Day on Friday, February 28th, 2014, the National Niemann-Pick Disease Foundation (NNPDF) is pleased to announce that, due to the diligent efforts of our family membership and their fund raising successes, the NNPDF will again be funding additional research into NPD.

Our current level of funding enables us to fund research fellowships to improve the understanding of the biology and pathogenesis of Niemann-Pick Disease Type C (Peter G. Pentchev Fellowship) and Acid Sphingomyelinase Deficiency (ASMD; i.e. Types A and B Niemann-Pick Disease, Edward H. Schuchman Fellowship).

Thanks to the hard work of our member families raising money in their communities, and the generosity of many individual and corporate donors, the NNPDF has directed over $5.2 million to Niemann-Pick Disease research since 1992.

View the NNPDF Request For Applications e-Newsletter for more information.

Alone We are Rare ~ Together We are Strong ~ 2014 Rare Disease Day e-Newsletter

Dear Families and Friends,

Today, there are thousands of people worldwide that are recognizing and raising awareness about rare diseases. From the United States, South America, and the UK to Turkey, Finland, and Russia - rare disease groups are letting their voices be heard.

Our Niemann-Pick Families are taking action on behalf of their loved ones and Worldwide they are showing that together we are not RARE!

Visit the link below to view our latest e-Newsletter that highlights Rare Disease Day in addition to other foundation updates!

Tuesday, February 25, 2014

UPDATE: NIH/TRND NPC Cyclodextrin Clinical Trial Announcement

Attention:  NNPDF Families and Friends,

UPDATE:  NIH/TRND NPC Cyclodextrin Clinical Trial Announcement

The National Niemann-Pick Disease Foundation (NNPDF) Central Offices received an update from Dr. Denny Porter at the National Institutes of Health (NIH) with reference to the current status of the NIH/TRND Cyclodextrin Clinical Trial.

Please visit the NNPDF Web page devoted to the NIH/TRND NPC Cyclodextrin Clinical Trial for the full update.

The NNPDF will continue to keep our NPD patient community and their families updated as to the status and activities taking place throughout this trial.

Thank you to all for their continued courage, involvement, expertise and support of all involved.

We WILL Persevere in our Quest for a Cure!

Kind regards,


Thursday, February 20, 2014

UPDATE: Genzyme ASMD ERT 1b ERT Clinical Trial

Hello NNPDF Families and Friends:

Genzyme, a Sanofi company, is pleased to update the Niemann-Pick Disease patient community on the progress of their efforts to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Simon Jones, MbChB, presented interim tolerability and safety information from the Phase 1b clinical trial at the WORLD(We’re Organizing Rare Lysosomal Diseases) Symposium, held in San Diego, CA; Tuesday, February 11th thru Thursday, February 13th, 2014.

The title of the presentation was: “An open-label, multicenter, ascending dose study of the tolerability and safety of recombinant human acid sphingomyelinase (rhASM) in patients with ASM deficiency (ASMD)” and was presented by Dr. Simon Jones.

To read the full announcement from Genzyme, A Sanofi Company; an accompanying statement from the NNPDF Research Committee Chair, Sandra Cowie and a narrative title: A Patients Perspective on ERT Therapy by James Dyson ~ please follow the link below.

The NNPDF and our ASMD family membership continue to be grateful to the team of members at Genzyme/Sanofi and the medical/clinical professionals at Mt. Sinai and UK clinical sites for their ongoing commitment and determination to move this ERT clinical trial forward. It is appreciated.

We will all anxiously await the further details highlighting the trial data results as they become available.

Kind regards,

Left to right, Alan Gilstrap, Director, Advocacy Development - Rare Disease; Genzyme Corporation  ; Sandra Cowie, NNPDF Research Committee Chairperson ; Dr. Simon Jones, Manchester Centre for Genomic Medicine St. Mary's Hospital, University of Manchester, England; Nadine Hill, NNPDF Executive Director

Friday, February 14, 2014

Happy Valentine's Day from the National Niemann-Pick Disease Foundation

Dear NNPDF Families and Friends,
The Central Office would like to wish you a very happy Valentine's Day and to remind all that Valentine's day isn't exclusively for couples. It's for family and friends too. For the people who bring out your best and love you at your worst.

Today is not a day to mourn the loss of love or that it hasn't found you yet. It's a day to recognize the people closest to your heart, wherever they may be, and let them know they mean more to you than words can convey.

It is you, by your continuous work and actions, that are the true heart of this foundation. 

So here's our Valentine to you, both friends and family alike. Be safe, be well and know you are loved all year long.

~NNPDF Central Office

Wednesday, February 5, 2014

Stanley & Jeffrey Gottlieb Scholarship Award ~ "Connecting the Dots" ~ An essay by Chandlar Smith

Dear Families and Friends,

Chandlar Smith, sister to Keaton (NPC), Braden (NPC ~ 10/3/1996 - 10/31/2006) and Riley (NPC ~ 11/11/1998 - 01/19/2014), recently wrote an essay about how living with three Niemann-Pick Type C siblings has not only changed her life, but her outlook on it.

This essay was written for submission to the Stanley & Jeffrey Gottlieb Scholarship, and was awarded to Chandlar, who kindly allowed us to share her essay with you.

Visit the Newsline to view the PDF copy of the essay.

We congratulate Chandlar on her essay and wish her the very best in connecting her dots moving forward.

Notre Dame Event ~ World Rare Disease Day Celebration ~ 2014

Dear Families and Friends,

In celebration of World Rare Disease Day on February 28th, Notre Dame is hosting a public event at their conference center. The event is free, but you must RSVP to attend by the deadline of February 9th, 2014.

Visit the Upcoming Events page, linked below, for more information on registering and the event itself.