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Research Funded by NNPDF and CCNNPDF

Research Funded by NNPDF and CCNNPDF

Grant & Fellowship Information

Latest Research Highlights from the NNPDF Research Committee


The research jointly funded by the National Niemann-Pick Disease Foundation and the Canadian Chapter of the National Niemann-Pick Disease Foundation is made possible in great part due to the efforts of our NPD families and their extended support network via local community-sponsored events. The NNPDF and CCNNPDF is truly grateful for this collaborative support throughout the USA and Canada.

The NPD community is one of the most collaborative there is. The level of idea/data sharing among scientists is remarkable. We are also a model for other rare disease with respect to our ability to accelerate work at the bench to therapeutics. And much of this had been made possible by the family-researcher partnerships that have sustained this work over the past 20 years.” – Dr. Dan Ory, Current NNPDF Scientific Advisory Board member & past SAB Chair (Sept. 2007 ~ Jan. 2014)

A key element to the foundation’s research strategy is the ability to track funds raised within the communities of our family membership.  Great care is given to identify monies received at the NNPDF Central Offices through family fundraising efforts so that a specific designation by disease type and a restriction towards research can be made.  The NNPDF is proud to ensure our family membership that 100% of the funds raised through their community events are directed towards NPD research!

09/12/2014 nmh

Glossary of Terms:

EMA – European Medicines Agency (European equivalent of FDA)
ERT – Enzyme Replacement Therapy
FDA – United States Food and Drug Administration
HDAC – Histone Deacetylase Inhibitors
ICV – Intracerebroventricular
IND – Investigational New Drug
i-IND – Individual Investiational New Drug
IRB – Institutional Review Board
NICHD – National Institute of Child Health and Human Development
NIH – National Institutes of Health
NPC – Niemann-Pick Disease Type C Disease
TRND – Therapeutics for Rare and Neglected Diseases

Vtesse, Inc. Announces FDA’s Granting of Breakthrough Therapy Designation for VTS-270 (2-hydroxypropyl-β-cyclodextrin) in Niemann-Pick Type C1 Disease
Dateline: 01/06/2016

vtesse_000_001_001The National Niemann-Pick Disease Foundation (NNPDF) is pleased to share with our NPC Community Members that the Food and Drug Administration (FDA) has granted VTS-270 (2-hydroxypropyl-β-cyclodextrin) a Breakthrough Therapy Designation. The FDA Breakthrough Therapy designation is designed to expedite the development and review of drugs within the FDA regulatory process.

This designation is granted by the FDA when the preliminary clinical data indicates that the drug may demonstrate substantial improvement on clinically significant endpoint(s). The Breakthrough Therapy designation is distinct from the FDA’s other mechanisms to expedite drug development and review, and will allow for a close collaboration between Vtesse and the FDA on the VTS-270 (2-hydroxypropyl-β-cyclodextrin) development program.

Both the FDA and the European Medicines Agency (EMA) had previously granted Orphan Drug status to VTS-270, which is currently in a pivotal Phase 2b/3 clinical trial. For additional information regarding VTS-270 (2-hydroxypropyl-β-cyclodextrin) clinical trial, visit Vtesse’s website.

In addition to the above press release, the NNPDF Central Office recently obtained the Webinar recording and slides associated with the Vtesse “Town Hall” Webinar hosted for the NPC patient community on December 14th, 2015.

[Jan 6th, 2016 ~ blg]

NPC Vtesse Clinical Trial & Central Office Updates
Dateline: Dec 21st, 2015

Dear NNPDF Family & Friends,

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to be able to share with our NPD community families updates associated with the following:

[Dec 21st, 2015 ~ blg]

Webinar on VTS-270 (2-hydroxypropyl-β-cyclodextrin) for NPC
Dateline: 12/07/2015

Dear NNPDF Niemann-Pick Type C (NPC) Family Members,

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to be able to share with you an opportunity to attend a town hall webinar hosted by Vtesse, Inc. with regards to the VTS-270 (2-hydroxypropyl-β-cyclodextrin) clinical trial for Niemann-Pick Disease, Type C (NPC).

Please join Vtesse on December 14, 2015 where Dr. Paul Gissen and Dr. Elizabeth Berry-Kravis will be providing an update on the clinical trial and will be available to address your questions. Vtesse is committed to keeping the community fully informed and soliciting feedback as they move through the clinical trial process.

Nadine M. Hill
Executive Director
National Niemann-Pick Disease Foundation

NIH Phase 1 Clinical Trial Historical Timeline

[Dec 7th, 2015 ~ blg]

NPD Current Clinical Trial Recruiting Update ~ e-Blast

Dear National Niemann-Pick Disease Foundation (NNPDF) Family Membership,

The NNPDF Central Office is working diligently to ensure that our entire NPD membership community is aware of the various clinical trial opportunities available for those seeking innovative therapeutic options for Niemann-Pick Disease. With this in mind, the foundation is providing an update and links to updates which we have received from the three pharmaceutical companies currently moving forward with clinical trial opportunities for NPD patients.

To view the e-news Blast with the updated information dated November 11th, 2015, click here

[Nov 11th, 2015 ~ blg]

Vtesse, Inc. Expands Scientific Advisory Board and Appoints new VP of Clinical Operations to Support Late-Stage Clinical Study of Lead Drug Candidate VTS-270
Dateline: 10/22/2015

vtesse_000_001_001Dear NNPDF Type C Families and Friends,

The NNPDF Central Office is pleased to share with our NPC Community a Press Release from Vtesse regarding a new addition of Elizabeth Berry-Kravis, M.D., Ph.D. to the Scientific Advisory Board for Vtesse and Michael Massaro as the new Vice President of Clinical Operations.

These new additions to Vtesse will enhance the team that is working to advance the clinical study of VTS-270 for Niemann-Pick Disease Type C.

Click here to view the full Press Release Vtesse dated October 22, 2015

[Oct 23rd, 2015 ~ blg]


Dear NPB Families,

At the 23rd Annual NNPDF Family Support and Medical Conference held in Chicago, Illinois, some individuals of the NPB community were able to take part in the Patient Reported Outcome.  Please follow the link below to read what participants in this Patient Reported Outcome had to say.  They are currently looking for caregivers of our pediatric NPB community to take part in this interview.

Thank you for your help!

[Oct 22nd, 2015 ~ blg]

Bio Report Podcast Featuring Ben Machielse from Vtesse, Inc.
Dateline: 10/06/2015

vtesse_000_001_001Dear NNPDF Type C Families and Friends,

Last week, Ben Machielse, President and CEO at Vtesse, had an opportunity to sit down with Daniel Levine for a segment featured on the Bio Report Podcast.   The Bio Report Podcast focuses on the intersection of biotechnology with business, science, and policy.

Ben was able to focus on the progress made in their clinical development program associated with the Phase II/III for VTS-270 a modified form of cyclodextrin.   We are sharing the link for you to listen to the audio recording of the pod cast below:

Rare Disease Drug Developer Shows Speed of Business Model

[Oct 6th, 2015 ~ blg]

Vtesse, Inc. Initiates Phase 2b/3 Clinical Trial of VTS-270 for Treatment of Niemann-Pick Type C1 (NPC) Disease

vtesse_000_001_001Dear NNPDF NPC Patient and Family Community~

The National Niemann-Pick Disease Foundation (NNPDF) is pleased to advise our Niemann-Pick Disease Type C patient & family community that Vtesse, has received FDA authorization to begin recruiting for the Cyclodextrin / VTS-270 clinical trial for patients in the United States, diagnosed with NPC1, who fall within the age range of 6 to 21 years.

If you have any questions, as always, contact the NNPDF Central Office at:

[Sept 28th, 2015 ~ blg]

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

vtesse_000_001_001The 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.

[Aug 6th, 2015 ~ blg]

Update from Genzyme on Acid Sphingomyelinase Deficiency (ASMD) Development Efforts

US Investigational Site Now Open for Recruitment
August 6th, 2015

vtesse_000_001_001ALERT: United States NPD Type B Families & Friends

The NNPDF central office noted today that the first investigational site for Genzyme’s Acid Sphingomyelinase Deficiency (ASMD) Pediatric Trial has been 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

For additional information, as well as, all previous updates regarding this Genzyme’s ASMD clinical trials, visit the NNPDF Genzyme Clinical Trial webpage.

[Aug 6th, 2015 ~ blg]


Hello NNPDF Families and Friends,

The NNPDF is pleased to announce to our Niemann-Pick Type B (ASMD) patient community a new “Qualitative Research Phase” titled:  Patient Reported Outcome (PRO) sponsored by Genzyme.  Patient-Reported-Outcome (PRO) instruments are measures self-reported by patients, about disease symptoms and impact, as well as impact of treatment.  Please review the attached announcement which further details the patient interview study and the essential component this information plays in support of the entire ASMD community.

In addition, the NNPDF has been able to work collaboratively with representatives from Genzyme and Evidera (the research consulting firm engaged to oversee this project) will be on-site to conduct “face-to-face” family and patient interviews at the upcoming 23rd Annual NNPDF Family Support and Medical Conference to be held in Chicago, Illinois ~ Thursday, August 6th thru Sunday, August 9th, 2015.

Please follow this link to read the full Genzyme announcement:  Click here to read the full press release

For more information pertaining to the NNPDF Family Conference, click here.

[Jul 22nd, 2015 ~ blg]

RE:  Vtesse NPC Community Town Hall Webinar ~ July 14th, 2015
Dateline: 14th, 2015

Vtesse invites you to hear about their progress, ask questions and provide feedback

vtesse_000_001_001The NNPDF is delighted to be able to share with you an opportunity to attend a town hall webinar hosted by the company’s leadership and clinical team. As mentioned in their initial announcement, Vtesse is committed to keeping the community fully informed and soliciting feedback as they move toward the clinical trial process for VTS-270 (cyclodextrin) for Niemann-Pick Disease, Type C (NPC). This is your opportunity to be part of that discussion.  Vtesse invites the NPC community to hear about progress, ask questions, and provide feedback.

This is a great opportunity to get answers to your questions and learn about the latest developments surrounding the clinical trial.

We WILL Persevere in our QUEST for a CURE!

[Jun 30th, 2015 ~ blg]

Research Publication: Successful Within-patient Dose Escalation of Olipudase Alfa in Acid Sphingomyelinase Deficiency (ASMD)

WassersteinThe NNPDF Central received notification of a recent on-line publication highlighting the work of Dr. Melissa Wasserstein, and the invaluable work that she has been doing to develop a potential therapy for acid sphingomyelinase deficiency (ASMD, also known as Niemann-Pick disease Types A and B).

Dr. Wasserstein’s work has been co-sponsored by the National Niemann-Pick Disease Foundation (NNPDF) and the Canadian Chapter of the NNPDF (CCNNPDF) since October of 2014.

An article was published in Elsevier’s Molecular Genetics and Metabolism magazine online that we wanted to share with the ASMD community.

Click here to read the full article:
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency

Learn more about Dr. Wasserstein’s specific research

[Jun 25th, 2015 ~ blg]