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February 2014 eNewsletter


2014 Rare Disease Day

February 28th – World Rare Disease Day!

Alone We are Rare ~ Together We are Strong!

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!

Did you know that an estimated 30 million Americans are affected by a rare disease?!  Special challenges face those with a rare disease such as Niemann-Pick Disease, in getting diagnosed, gaining access to appropriate treatment, finding support resources, and in advancing essential research.

World Rare Disease Day will be observed around the globe on Friday, February 28th. Rare Disease Day is observed worldwide annually on the last day of February to raise awareness of rare diseases as a public health issue. Groups around the globe conducted advocacy, awareness and fundraising efforts in support of all those affected by a rare disease. Thank you to all who participated!

The National Organization for Rare Diseases (NORD) is the sponsor of Rare Disease Day in the United States, and EURORDIS is the sponsor in Europe.  The National Niemann-Pick Disease Foundation is a Rare Disease Day Partner with NORD, and we support the observance of World Rare Disease Day among our members.

CLICK HERE to see a photo montage of individuals living with
Niemann-Pick Disease and taking part in World Rare Disease Day

Many thanks to the talents of Rebecca Spencer-White, mother of Johnathan Spencer (NPC), for creating the montage and Facebook icons to help raise awareness!

Visit the NNPDF’s World Rare Disease Day web page to find out ways in which you can participate to show support for your loved one living with Niemann-Pick Disease.

NNPDF Fellowships ~ Request for Applications 

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.

The NNPDF invites applications for research fellowships examining the biology of Niemann-Pick Type C (NPC ~ Peter G. Pentchev Fellowship) disease, a lethal neurodegenerative disease, as well as examining the biology of Acid Sphingomyelinase Deficiency (ASMD; i.e., Types A and B Niemann-Pick Disease ~ Edward H. Schuchman Fellowship), a rare inherited lysosomal storage disease.

Those eligible to apply for funding are:

  • Predoctoral students with a lab selected and an approved thesis
  • M.D., Ph.D and D.V.M postdoctoral researchers
  • Early career investigators

Preference will be given to research projects that will improve our understanding of the biology and pathogenesis of Niemann-Pick Disease Type C (Peter G. Pentchev Fellowship) and ASMD (Edward H. Schuchman Fellowship).

The fellowships provide support of $50,000 per annum for two years ($30,000 per annum for three years for predoctoral fellowships) and may be renewable based on performance. Applicants must be currently associated with a recognized laboratory. 

Applications are due May 1st, 2014, and should be submitted by e-mail to the NNPDF Central Office at Information regarding application procedures is below. Applicants will be informed of the funding decision by September 1st, 2014, via e-mail. Fellowships awarded will begin October 1st, 2014. 

For further information please contact the National Niemann-Pick Disease Foundation’s Central Office, or visit the NNPDF Research Fellowship page.

Printable Flyer/Poster ~ Peter G. Pentchev Fellowship vs. NPC

Printable Flyer/Poster ~ Edward H. Schuchman Fellowship vs. ASMD

Clinical Trial Updates

NPD Type B (ASMD) and NPD Type C


Dateline: February 13th, 2014

RE: Genzyme Acid Sphingomyelincase Deficiency (ASMD) Clinical Trial Update

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

Recently, Dr. Simon Jones, MbChB, presented interim tolerability and safety information from our Phase 1b clinical trial at the WORLD Symposium, held in San Diego, CA.  

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) The abstract is listed under # 112

For the full update, detailed background and history on the ASMD Clinical Trial, visit the NNPDF Enzyme Replacement Therapy web page.


Dateline: February 25th, 2014

RE: NIH/TRND NPC Cyclodextrin Clinical Trial Update

Dear NNPDF Families and Friends,

We received the following update from Dr. Denny Porter with reference to the NIH/TRND Cyclodextrin Clinical:

Dr. Porter advised: 
We have hit a potential safety issue with the HPBCD trial.  The initial two kids who received the 300 mg dose demonstrated a grade 1 high frequency hearing loss on safety testing.  Grade 1 is the lowest level of severity.   Five other children have been exposed to the 300 mg dose.    We do not yet have safety testing on this group.  We will obtain this information over the next 3-4 weeks. We do not yet know if this is an idiosyncratic (the initial two kids are siblings) reaction or if this is going to be a general issue.   We have engaged the IRB and safety committee.  We will be engaging the FDA.   Our goals are to determine if we have a general safety issue and to figure out the best path forward.   Beyond the statement that a problem with hearing has been encountered and we are trying to figure out the safest and best way forward, there is not much that we can say.  There are multiple hypothetical paths forward at this time and the final plan is subject to information that we don’t have yet and input from other groups.  The uncertainty will remain for much of the next month.  We are not halting the trial.    

Forbes D. Porter, MD, PhD
Senior Investigator, PDEGEN, NICHD
Program Head, PDEGEN, NICHD
Clinical Director, NICHD

As Dr. Porter noted, all involved will need to wait until the children in the trial return back to the National Institutes of Health in Bethesda, Maryland for further testing before the multiple agencies involved will be able to make any additional determinations on how to proceed.  Of course, of utmost concern is that any action will ensure that “first and foremost” – the health and safety of all involved is in the forefront.

Thank you to all for their continued expertise, support and involvement in these efforts.

For the detailed background and history on the NIH/TRND NPC Cyclodextrin Clinical Trial, visit the NNPDF Cyclodextrin Clinical Trial web page.

22nd Annual NNPDF Family Support and Medical Conference

San Francisco, California

Join the family members of the National Niemann-Pick Disease Foundation (NNPDF) for the 22nd Annual Family Support and Medical Conference to be held in ~ San Francisco, California. 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.

The families of: Raymond and Tara Patterson-Martin, Doug and Rebecca Spencer-White and Roy and Brenda Teller have generously agreed to act as family hosts for this year’s conference.  Plans are already underway to bring you a conference that not only gives our family membership access to key NPD researchers and medical clinicians, but also offers you a fabulous destination to take time to celebrate your loved ones and family.

Contract negotiations with the hotel is in the final stages and the date, as well as, hotel site for the 2014 NNPDF Family Support and Medical Conference will be announced shortly. We will be updating the 2014 NNPDF Family Conference page on the foundation web site with more information as it becomes available, with follow ups on all the social medias.  We hope to see many of you in San Francisco, California this summer!

NNPDF 2014 Annual Board Meeting ~ Milwaukee, Wisconsin

NNPDF Board of Directors, Committee Chairs, Guests, and Staff (from left): Front Row – Sandra Cowie, Robin Montvilo, Jill Flinton, Rhonda Brown-Kehoe; Back Row – Jonathan Jacoby (guest), Darrile Papier, Beth Green (Administrative Assistant), Karen Quandt, Elisa Miller-Visoky (guest), Wayne Palmiter (guest), Nadine Hill (NNPDF, Executive Director), Tammy Vaughan, Brenda Teller, Becky McGuire, Lisa Chavez

Members of the NNPDF’s Board of Directors braved Wisconsin’s “Polar Vortex” and other inclement weather to travel to Milwaukee for the foundation’s 2014 Annual Meeting the first weekend of February. The weekend was jam-packed with meetings of the board and committees, making the most of the opportunity to meet face-to-face and set the foundation’s goals and objectives for the future.

As we take step back from the board meeting to reflect on past accomplishments, we also look ahead to the future in 2014 and beyond.  We need to take the time to thank key members of the foundation board who will be taking their “mandatory year of leave” from the NNPDF for 2014 ~ Karen Quandt and Tammy Vaughan.  Both of these ladies have had a stellar run while members of the foundation board taking part in the work of the NNPDF on behalf of their precious children, Ty Quandt (NPC ~ Age 17 years) and in memory of: Alex Vaughan (NPC ~ 04/18/88-12/23/92) and Laura Vaughan (NPC ~ 01/16/95-11/08/01).

In addition, we bid a fond farewell to two other board members, Kathy Lane and Brenda Teller, who are taking a step back from their volunteer efforts on behalf of the foundation to focus on family matters.  We know that while these women won’t be involved with the day-to-day activities of the foundation ~ the work of the NNPDF will not be far from their hearts.

Certainly, as we look back over the work of the foundation we will be able to see the “hand-prints” of influence, tireless hours of effort and loving work that these devoted Mothers have brought to the table while they served on the NNPDF board these many years.  These ladies have all been active in varying degrees and capacities over the years ~ from committee members and chairs, to Family Conference Hosts, Child-care Care Coordinator and Family Liaisons. 

We are indeed truly grateful to each of these lovely ladies and their families for all that they have been able to contribute to the foundation and we wish you all the best as you take the first tentative steps into 2014 without “Niemann-Pick Disease” being a forefront focus in your lives. 

Brenda, Karen, Kathy and Tammy heartfelt thanks to you all for your countless years of devoted and selfless service to the foundation and our loved ones diagnosed with Niemann-Pick Disease.  It is appreciated more than you can imagine.

We know that you will all stand with us one day ~ hand-in-hand ~ as we shout to the mountain tops that we have indeed PERSEVERED in our Quest for a Cure!

Visit the NNPDF Web site’s Meet the Board page for more information about the NNPDF’s dedicated leadership team, and we invite you to contact the NNPDF Central Office with any questions.

Thank you for your continued support in the fight against Niemann-Pick Disease!
Please contact us if you have any questions or need further information.


The NNPDF is a non-profit 501(c)(3) corporation and your gift is fully tax-deductible.
Tax ID #35-1844264

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