Pages Menu
Categories Menu

September 2015 eNewsletter


2015 NNPDF 23rd Annual Family Support and Medical  Conference FUN Continues!

2015 NNPDF Family Conference Links

“The Winds of Hope are on the Horizon… for our NPD Community”  and at the Chicago Conference definitely was the case.  Photos and family recaps continue to stream into the office!  Of course we love to share with all!

More family photos and conference pictures are arriving at the NNPDF Central offices daily. We welcome and encourage families to forward these along as the NNPDF Central Offices will be creating a slide show of all the photos, which we will then incorporate them all into the Family Conference 2015 Recap web pages ~ follow this link.

Family Conference Presentations

For those who weren’t able to attend the Chicago Family Conference, or if you were in attendance but wish to revisit some of the presentations, the foundation did receive sponsorship to record the sessions offered to the NPC membership.  The NNPDF staff are currently reviewing these videos prior to posting on the foundation web site. Once we have obtained all of the appropriate permission to post these videos from their speakers ~ we will further advise the community.  Scientific research updates typically are not posted or made widely available until the information is published.

Notes from the ASMD Presentations are being transcribed and will be made available soon.

Thank you to all who were able to attend and participate in the 23rd Annual Family Support and Medical Conference.  Each and every participant and all of our cherished volunteers ensured that this year’s conference was a wonderful event and one for the record books!  All came away with an infusion of HOPE as we continue to Persevere in our Quest for a Cure!

2015 Family Conference Memorial Table
We Will Never Forget

Clinical Trials:  Updates and Recruitments



Vtesse, Inc. Announces Preliminary Data from Ongoing Phase 1 Study of VTS-270 for Treatment of Niemann-Pick Disease Type C

Dateline: August 6th, 2015: The NNPDF Central Offices are pleased to share with our NPC community that Vtesse, Inc. announced preliminary results today from an open-label Phase 1 clinical trial with VTS-270 (a formulation of (2-hydroxypropyl)-beta-cyclodextrin) for treatment of Niemann-Pick Disease Type C (NPC) conducted by researchers at the National Institutes of Health (NIH) Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD).

Preliminary analyses, conducted post-hoc, suggest that the rate of disease progression had slowed down (based on a standardized measure) in children treated with VTS-270 in the Phase 1 trial as compared to the rate in an age- and disease severity-matched cohort obtained from a separate natural history study of NPC patients. The analyses also show that children treated with VTS-270 demonstrated improvement on several disease domains.

Click here to read the full Press Release from Vtesse, Inc. Dated: August 6th, 2015

Families should follow enrollment criteria as provided on the page. To view these criteria, location details and for additional contact information please visit and refer to study reference number: NCT01747135

The title of the trial is listed as: Hydroxypropyl Beta Cyclodextrin for Niemann-Pick Type C1 Disease.

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Vtesse provided in the clinical trial information page.



Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts
US Investigational Site Now Open for Recruitment 
August 6th, 2015

ALERT: United States NPD Type B Families & Friends

The NNPDF Central Office noted that the first investigational site for Genzyme’s Acid Sphingomyelinase Deficiency (ASMD) Pediatric Trial in the United States was recently updated and is now actively recruiting pediatric patients at the approved clinical trial center in New York, NY.

Families should follow enrollment criteria as provided on the page. To view these criteria, location details and for additional contact information please visit and refer to study reference number: NCT02292654

The title of the pediatric Phase 1/2 trial is listed as: Safety, Tolerability, PK, and Efficacy Evaluation of Repeat Ascending Doses of Olipudase Alfa in Pediatric Patients <18 Years of Age With Acid Sphingomyelinase Deficiency.

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Sanofi provided in the clinical trial information page.

to read the letter recently sent out to families from the NNPDF Offices regarding recent Genzyme updates.



Clinical update: Orphazyme announces update to its Niemann-Pick Disease Type C clinical programme — AIDNPC
Dateline: September 10th, 2015

Orphazyme’s clinical program AIDNPC that investigates the orally available small molecule arimoclomal in Niemann-Pick disease type C is initiating in Europe, with recruitment commencing in September.  If proven effective, the program will be moved as quickly as possible to registration to become available for all patients suffering from Niemann-Pick disease type C.

Click here to read the full Press Release from Orphazyme

Families should follow enrollment criteria as provided on the page. To view these criteria, location details and for additional contact information please visit and refer to study reference number: NCT02435030

The title of the trial is listed as: A Prospective Non-therapeutic Study in Patients Diagnosed With Niemann-Pick Disease Type C.

Patients are encouraged to contact their physicians regarding this information and their physicians will be able to further contact the trial transparency team at Genzyme provided in the clinical trial information page.


Understanding Niemann-Pick Disease Type C Clinical Trials

Installment #2: (September 15th, 2015)

This month we are pleased to share with our NNPDF membership, an informative document developed by the “51 & Done!” Parent / Patient Trial Recruitment Campaign members, in an effort to assist the NPC Community in understanding all the information available regarding the upcoming clinical trials and what should be considered when it comes to choosing whether or not to participate.  It should be noted, that much of the information included in the first segment below titled:  Clinical Trials; will also pertain to our ASMD patient community as the address the complex issues associated with trial participation for NPB Enzyme Replacement Therapy.

This information is being presented to the NPD family membership by “51 & Done!” Parent / Patient Campaign representative, Harry Koujaian, father of Hayley Koujaian (NPC).

Harry noted: “This is an exciting and enviable time for the NPC community with several clinical trials currently being discussed. It can be a confusing time too as families try to decipher all of the available information to understand what the trials are about and whether their loved ones a) are eligible, b) whether they want to be involved and c) whether it will be available in their country/location.

Below is a document that is divided into two sections; the section “Clinical Trials” explains what a clinical trial is and provides a list of potential questions to ask as part of your research into the trials, and the section “Clinical Trials Comparison” provides a table comparing the current trials in Niemann-Pick Type C.

Click here to view the NPC Clinical Trial Documents (N/A)

Please do not hesitate to Harry Koujaian at: if you should have any questions. Please be advised that this document will be updated as new information becomes available.

NOTE:  The “51 and Done” is a committee composed strictly of parents dedicated to providing information and knowledge to the Niemann-Pick Type C community on ALL upcoming and future clinical trials. The intent is to ensure parents have objective and relevant information and knowledge to help them decide on the path to take for their loved ones affected by NPC. Please note that the “51 and Done” committee does not engage in the practice of medicine or claim to have medical knowledge. The main purpose of this committee is to provide information and knowledge from publicly available sources.”


“51 and Done!” Parent/Patient NPC Trial Recruitment Campaign

Installment # 1 (August 17th, 2015) – Last month we talked about how important the “51 and Done!” campaign is to the NPC Community.   This important NPC community alignment to provide support for the NIH’s Phase I Cyclodextrin trial is vital for the NPC community.  The information explaining it further can be found at 51 and Done!

To go along with the information regarding “51 and Done!” Vtesse has a new website to assist the NPC Community with understanding more about the clinical trial for not only patients and families but also for physicians.  You can find out if your loved one is eligible to be a part of the NPC Study and also find more information to help you decide if the trial is right for your family.  This is a personal family decision and the NNPDF wants our members to have the information and resources that they need to make the right decision for themselves.

Please go to  Feel free to pass it on to your physician or other NPC families too!

The NNPDF also has an article for families to use that has more resources.  You can find this article by clicking the link below.

Thinking About Experimental Therapies

“Alone We Can Do So Little, Together We Can Do So Much”

GLOBAL October 2015 Niemann-Pick Disease Awareness Month

NNPDF families are beginning to gear up for this year’s October Awareness Month!  Our theme this year will tie into:  “Thumbs UP For A CURE!”

October is the time to raise awareness about Niemann-Pick Disease! We need to get the word out about this rare disease to doctors, to families, to government leaders, and to the general public.

Activities can be simple or complex, but please make some time during October to reach out and tell your story!  We invite and encourage each family to look within their family structure, friends and community support networks to create their own team and sponsor an awareness campaign and/or fundraising event during October.

To see how you can help this October, visit the October Awareness Page from last year to see what events were held.  The page will be updated for 2015 as we get closer to October 1st.  Watch that page and your e-mail for updates shortly!

As always, please don’t forget to contact the NNPDF central offices if you are hosting an event that either raises funds in support of NNPDF programs and services and/or raises further awareness into Niemann-Pick Disease!

Contact Chris Klauer, Family Services and Marketing Coordinator at and she will be happy to assist you with planning and fine-tuning your NPD events and awareness activities!

Reminder from Chris Klauer, Family Services & Marketing Coordinator

If you have not updated your NNPDF Membership form, please make sure to do that right away!  All Members are being asked to update their information to ensure that you are receiving all of our communications.

Once you read the instructions below please go to our Online Membership Form and submit your information today!

When you click on the link a new page will open.  Please choose your category:

  1. Immediate Family Member of someone diagnosed with Niemann-Pick Disease
  2. Extended Family Member of someone diagnosed with Niemann-Pick Disease
  3. Community Support/Family Friend of someone diagnosed with Niemann-Pick Disease
  4. Click CHECK OUT~ you will NOT be charged for this it is free!  We are simply updating our records.

A new page will open that has the same information on it as the membership form you completed when you joined the National Niemann-Pick Disease Foundation.

9 8.16

PO Box 49, Fort Atkinson, WI 53538-0049
Phone: 920-563-0930  |  Toll Free: 877-287-3672 |


Connect with us!