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Message from the NNPDF Board Chair on recent VTS-270 update

Dear Friends,

Mallinckrodt Pharmaceuticals recently announced the preliminary results for the double-blind portion of the pivotal trial evaluating intrathecal VST-270, indicating that it did not meet the primary endpoints. As you may be aware, the investigators initially expected both the treatment group receiving VTS-270 and the placebo group to have progression of the signs and symptoms of Niemann-Pick disease during the 1 year trial. The hypothesis was that VTS-270 would slow the rate of the disease progression. These presumptions were based on previous studies that evaluated the disease and its expected course. Unexpectedly however, neither the placebo group nor the VTS-270 group showed statistically significant disease progression over the course of the 52 weeks of the trial. This obviously warrants further evaluation. Mallinckrodt has shared with us that they are working with the principle investigators and will review the data and all other available data from earlier trials and even data from patients being treated under compassionate use programs. We anticipate a better understanding of overall results as they are known to them, along with an update on their next steps in the more immediate future.

I know many of you are confused and unsure about these results and what they mean to the community. As a national patient foundation, we have the important job of being your collective voice in matters like this. Since this information came to the public eye, our staff has been working hard to be that voice. We communicated your concerns to Mallinckrodt earlier this week and received answers to some of your initial questions, which we shared on the NNPDF website as well as email and social media. We are working now to coordinate an in-depth discussion with Mallinckrodt’s senior leadership which will be dedicated to providing more information on the recent trial results and how those results affect the trial. More importantly, we hope to start the discussion about where we go from here, especially for families that are participating in the clinical trial or are receiving this therapy through expanded access.

As staff and Board members, we value and respect the degree of sacrifice and commitment that many of you have made by participating in clinical trials with the hope of providing important information that will lead to treatments for all of us. Please remember all trial data is incredibly useful in moving our community forward to a cure and we will realize the benefit of the data when it is viewed in its totality.

We encourage you to continue to stay strong and connected as a community while we work to better understand these results. One way you can do this is by submitting your questions for Mallinckrodt to by Monday, November 12th. These questions will be compiled for Mallinckrodt and brought to their senior leadership, as a collective voice of the community.

We will be updating you with more information soon.

My Best,
Justin Hopkin, MD
NNPDF Board Chair

11/10/2018 jjb

NPC VTS-270 Discussion with Mallinckrodt Pharmaceuticals

To our NPC Community Members:

As the national patient organization, NNPDF represents you – the Niemann-Pick community. To assist the community with a better understanding of the recent VTS-270 early phase data announcement and help get answers to questions many of you have, we are here to assist you in communicating with Mallinckrodt. We have been in ongoing communication with the Mallinckrodt team and they are committed to continue providing information and answers to your questions.
In order to do this, we are working with Mallinckrodt to arrange an in-depth discussion with senior leadership on your behalf which will be dedicated to providing more information on the recent trial results and obtaining answers to the questions of the community that we will be able to share back to you. Please understand that they may not be able to answer all our questions as they are limited as a public company and still investigating overall data points themselves. 
Mallinckrodt has asked that you please direct your questions to your national patient organization and we will compile them for Mallinckrodt’s leadership. Please send in your questions by Monday, November 12th. Questions in the U.S. can be directed to

11/9/2018 jjb

NPC VTS-270 Phase 2b/3 Clinical Trial Update

To our NPC Community Members:

On 11/6/18 Mallinckrodt released their topline findings from their recently completed VTS-270 Phase 2b/3 clinical trial. In absence of an official press release from Mallinckrodt we were asked to share a clinical trial update from Mallinckrodt, which we did on our website and through social media avenues. 

NNPDF continued conversations with Mallinckrodt to better understand the information released. Below are answers that were provided by Mallinckrodt to us to share with the national community.

You can continue to send your concerns and questions to us as a central repository at and we will continue to advocate on the community’s behalf to obtain as many answers to your questions as we can. 

Q. What does this news mean for patients who are currently on the trials?
A. Current studies and expanded access/compassionate use programs currently in place will continue. We understand the importance of pursing this potential treatment of Niemann-Pick Type C, and based on our current assessment of the safety data, at this time we believe that continued treatment with VTS-270 in the ongoing open label portion of the trial is acceptable.

Q. Are patients currently on VTS-270 still able to continue to receive it?
A. Based on our current assessment of the safety data, believe that continued treatment with VTS-270 in the ongoing open label portion of the trial is acceptable.

Q. Are new patients able to access VTS-270 via EAP or compassionate use?
A. Based on our current assessment of the safety data, believe that continued treatment with VTS-270 in the ongoing open label portion of the trial is acceptable

Q. Did VTS270 “fail”? (i.e. is it being taken out of circulation?)
A. We believe that continued treatment with VTS-270 in the ongoing open label portion of the trial is acceptable. Patients, their families, and our patient group partners, should know that we remain deeply committed to this work.

Q. When is a more complete analysis of the data expected?
A. It’s difficult to provide an exact timeline, there is a lot of work to do including analyses, review of the data internally, consultation with external experts and engaging regulatory agencies.

Q. Is there a point of contact for patient & family inquiries? 


  • Patients not currently receiving VTS-270: advocacy group lead who can then funnel to Sheila Talafous
  • Sponsored clinical study: PI who can forward the question to Susan VanMeter, MD
  • Expanded access protocol: physician sponsoring the expanded access/compassionate use who can then forward to Susan VanMeter, MD

Additional Resources:

Click here to read the letter sent to NNPDF regarding VTS-270 Phase 2b/3 announcement on 11/6/18.

If you would like to hear more about Mallinckrodt’s Q3 Investor call, click here to listen to the replay of the webcast held on 11/6/2018 from Mallinckrodt’s website.

Click here to view the full transcript of Mallinckrodt’s Q3 Investor via Seeking Alpha.

11/8/2018 jjb

ASMD Update

Over the past months, NNPDF has identified the need for ongoing communication and updates from our industry partner Sanofi Genzyme. The Sanofi Genzyme team has heard this request and is working hard to deliver consistent updates to the ASMD community, highlighting the value of community-industry information exchange.

Recent steps towards this include:

  • ASMD community member, Jeff Bebout, spoke at Sanofi Genzyme during October Awareness Month. Jeff shared his personal experience living with ASMD, his path to diagnosis, his health challenges, and his hopes for the future with Sanofi staff at the Cambridge, MA headquarters.
  • The community requested an FAQ from Sanofi during their session together at this year’s NNPDF Family Conference. The purpose of this document is to address several important questions that the ASMD community has within global guidelines that the company has set. Sanofi is currently working on responding to our FAQ and is eager for its presentation to the community.
  • Sanofi is working with the International Niemann-Pick Disease Alliance (INPDA), which NNPDF is a member of, to create a 1 page informational document on ASMD for healthcare providers as well as a patient version.
  • Several community surveys are soon to be underway related to ASMD. These include a Preference Study and a Caregiver Study to follow.
  • Additional information related to Niemann Pick Disease Types A/B (ASMD) patient and trial information is available on our website.
10/23/2018 jjb

ASMD Patient Jeff Bebout Speaks at Sanofi Genzyme

Standing room only in the Sanofi Genzyme auditorium where employees gathered to hear from ASMD patient, Jeff Bebout, during Niemann-Pick disease awareness month.

“As a child growing up with this disease, life became a list of don’ts… Explaining the impact is exhausting… People want to be optimistic but that often negates my patient experience.” – Jeff

10/17/2018 jjb

Annual Severity Increment Score as a tool for stratifying patients with Niemann-Pick Disease Type C and for recruitment to clinical trials

Niemann-Pick disease type C (NPC) is a lysosomal storage disease with a heterogeneous neurodegenerative clinical course. Multiple therapies are in clinical trials and inclusion criteria are currently mainly based on age and neurological signs, not taking into consideration differential individual rates of disease progression.  This study evaluates a simple metric, denoted annual severity increment score (ASIS), that measures rate of disease progression for potential use in clinical practice.


08/17/2018 jjb

Amerigen and Dipharma Announce U.S. FDA Approval for Generic Miglustat 100 mg Capsules

NNPDF understands that there is great interest in the recent news of the FDA approved generic drug Miglustat for type 1 Gaucher disease. We are in touch with Amerigen Pharmaceuticals to find out more information on availability and will update this page as it becomes available.


UPDATE May 9, 2018

As way of further update regarding Miglustat, we have received the following information from Amerigen Pharmaceuticals: Miglustat capsules were approved on 4/17/2018 for monotherapy for the treatment of adult patients with mild to moderate type 1 Gaucher disease for whom enzyme replacement is not a therapeutic option.  Miglustat is available through specialty pharmacies and wholesalers.  Patients who have questions on availability or pricing can contact Accredo,, the specialty pharmacy carrying the Amerigen product.

NNPDF Disclaimer:  The NNPDF does not engage in the practice of medicine. This information is provided only as an educational resource.  Individuals should contact their medical provider regarding appropriate treatment options for their specific conditions. NNPDF does not promote the use of any drug for families including those that are not FDA approved for NPC.  Miglustat to date has not been FDA approved for use in NPC nor has its efficacy been proven in the U.S. for any diseases other than type 1 Gaucher disease.

05/03/2018 jjb, 5/9/2018 cdk

INPDR Announcement

INPDR: A project initiated by the “International Niemann-Pick Disease Alliance”

The INPDA and NNPDF are delighted to announce that the NNPDF will be acting as a co-coordinator for information and support for the roll-out of the International registry for NPD in the United States.

It has taken three years and $3m but the NPD world now has a truly international disease registry. This registry has been created by a consortium of NPD scientists, clinicians and patient organisations from around the World.  This registry is collecting data from clinicians and affected families.

Unlike most disease registries this registry is owned by the INPDA, a worldwide network of NPD patient support and advocacy foundations, and managed by a team of professionals. The objective of the registry is to facilitate progress by building knowledge about both ASMD and NPC. By understanding the natural history of these diseases it will be possible to evaluate therapies, manage and predict disease progression, recruit for trials and tailor treatments. In brief begin to understand more about these diseases.

The registry is now built and it will be launched in as many countries as possible throughout the World this year. The NPD patient support and advocacy groups will be receiving information about the roll out and will be in touch during 2017.

This initiative has the potential to significantly enhance progress and make a real difference to those affected by Niemann-Pick Disease.

05/17/2017  jjb