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October 2015 eNewsletter


GLOBAL October 2015 Niemann-Pick Disease Awareness Month

Global Niemann-Pick Disease Awareness Month has started and you are all doing a great job of raising awareness.  The NNPDF Central Office wanted to be sure that there are ways for everyone to take part in this event.

First of all if you are on Facebook please request your banner and icon from Beth at  We are also requesting permission to use your loved one’s picture in our Fast Facts of the Day post.

On October 24th we would like you all to choose one of the ideas below and then flood Facebook with pictures! If you do not have Facebook, you can email or snail-mail your pictures to the Central Office.  To provide you with a variety of fun things that the whole family and community can take part in the Central Office has come up with some ideas (with help from some creative NNPDF members).

The theme for this year is “Thumb’s Up for a Cure!”  So many of the items will revolve around this!

  • Take a picture of your loved one (or a selfie of yourself) who is diagnosed with NPD.  Wear your Persevere Wristband or NNPDF t-shirt showing everyone your “thumbs up”
  • Using a colored ink pad you can have your friends and family members create a rainbow or a heart on tag board.  Everyone inks their thumbs and creates a great design.  Then Thumb’s Up for a Cure can be printed on it!  Take a picture showing support!
  • Place a purple lightbulb in your porch light.  Take a picture and ask others to show support!
  •  Paint a pumpkin in periwinkle (purple) and write PERSEVERE on it!
  • “Pay It Forward” You can use the link below to print off your “Pay It Forward” cards or create your own that are personalized in honor or memory of your loved one.  Hand them out after you pay it forward.  You could even provide them with two cards and ask them to pay it forward to someone else.  Some ideas to pay it forward:
  • Purchase a coffee, soda or water for someone else standing in line.
  • Rake someone’s leaves
  • Drop off a baked good
  • Babysit for a friend

Pay It Forward Cards

If you are holding a fundraiser or awareness event in your community please be sure to let the Central Office know about it.  We can then let others know how they can support your event.

We will PERSEVERE for a cure!!!

2015 NNPDF 23rd Annual Family and Medical Support Conference Update

The NNPDF received sponsorship to record some of the sessions offered to the NPC membership at the Family and Medical Support Conference.  Some sessions are not available as the research has not been published. This is a common practice in the scientific research community.

The NNPDF is able to provide the following sessions for our membership to listen to.  If you click on the session you will be taken to the recording.

Recordings unavailable 1/17/2018

Dr. Carlos Camozzi: “Orphazyme, Development and Clinical Trial Updates on Arimo-clomol in NPC”

Dr. Liz Berry-Kravis: “Support of the Individual Patients” i-IND” for Treatment of Niemann-Pick Disease Type C”

Dr. Ben Machielse: “Vtesse Inc.  Updates and Protocol on Clinical Trial Efforts for BTS-270 (cyclodextrin) in the treatment of NPD Type C”

Carrie Burke: “Newborn Screening (NBS) ~ An Overview ~ Policy and Regulatory Issue Impacting NBS”

Dr. Xuntian Jiang: “NNPDF Funded Fellowship Research Presentation of Newborn Screening Blood Test Assay”

Dan Leonard: “Drug Development 101”

Amy McCagg: “Drug Development 101 – How does it all start?”

A Parent/Patient Perspective

Dr. Liz Berry-Kravis: “Clinical Trial Participation 101”

Phil Marella: “NIH Clinical Trial”

Harry Koujaian: “i-IND”

Anne O’Connor-Smith: “ASMD Clinical Trial Participant”

The NNPDF Central Office has received some notes from NNPDF members of the ASMD Sessions at the Family Support and Medical Conference.  The Central Office will be transcribing them for the ASMD membership.

Here is the first installment of those notes:

Sharon Tan speaking about Genzyme and the Adult and Pediatric Trials

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: October 7th, 2015

Vtesse has multiple updates regarding their VTS-270 Phase 2b/3 trial.  Included are:

  • Recruitment sites for the Phase 2b/3 trial ~ 2nd authorized site
  • Bio Report Podcast from Ben Machielse of Vtesse
  • Phase 2b/3 ~first three patients screened for inclusion at 1st authorized site
  • Power point from Vtesse regarding the Phase 2b/3 trial ~ addresses dosing and hearing loss experienced by a Phase 1 patient

For additional information please visit the NNPDF Vtesse web page:



Clinical update: Orphazyme announces update to its Niemann-Pick Disease Type C Clinical Programme — AIDNPC

Dateline: October 9th, 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.  ( was updated with more recruiting sites in Europe.  There are no sites recruiting in the U.S. at this time.)

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 Vtesse provided in the clinical trial information page.

NNPDF Fellowship Progress Reports

The research funded by the NNPDF is made possible in great part due to the efforts of our member families and their extended support networks via local community-sponsored events, and through the support of the Canadian Chapter of the National Niemann-Pick Disease Foundation (CCNNPDF).  The NNPDF is truly grateful for this support!

We’re proud to provide our families with the latest updates on our current fellows and their research as provided to the NNPDF.

Dr. Melissa Wasserstein
Mt. Sinai School of Medicine ~ New York
“Niemann-Pick Disease: Genotype/Phenotype Analyses and Molecular Based Therapy”

Dr. Charles Vite
University of Pennsylvania ~ Philadelphia
NPC Cat Colony “Fellowships of the Cats II”

Gizely Andrade
Albert Einstein College of Medicine ~ Bronx, NY
“Developing Neurophysiological Outcome Measures for Treatment Assessment in Niemann-Pick type C (NPC) Disease.”

Dr. Xuntian Jiang
Washington University ~ St. Louis, MO
“Development of a diagnostic test and newborn screen for Niemann-Pick C disease”

Kanagaraj Subramanian
The Scripps Research Institute ~ La Jolla, CA
“Roadmap for Drug Development for Niemann-Pick Disease”

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