Community News & Updates
- Orphazyme appoints Kim Stratton as Chief Executive Officer
- CTD Holdings, Inc. Appoints Head of Global Affairs
- CTD Holdings, Inc. Announces Closing on $7.4 Million Private Placement
- IntraBio IB1001 Series Update
- Amicus Therapeutics and the University of Pennsylvania Announce Major Expansion of Gene Therapy Collaboration
- CTD Holdings Announces Participation and Support at INPDA Conference
- NNPDF to Join National Effort to Add NPC to Newborn Screening Lists
- NIH shares Survival Data in NPC Natural History Study
- CTD Holdings, Inc. Announces Plans for Clinical Trial of Trappsol® Cyclo™ in Alzheimer’s Disease
- Additional Travel Funding For Those Participating in PFDD Meeting
- Welcome 2019 – Upcoming Events
- Mallinckrodt Announces Spin-Off of Specialty Generics Business
- IntraBio Receives NPC Orphan Drug Designation
- Mallinckrodt Update: Questions Submitted to Mallinckrodt
- Message from the NNPDF Board Chair on recent VTS-270 update
- NPC VTS-270 Discussion with Mallinckrodt Pharmaceuticals
- NPC VTS-270 Phase 2b/3 Clinical Trial Update
- ASMD Update
- ASMD Patient Jeff Bebout Speaks at Sanofi Genzyme
- Annual Severity Increment Score: Tool for stratifying NPC Patients
- Amerigen and Dipharma: U.S. FDA Approve Generic Miglustat
- INPDR Project
Orphazyme A/S announces that the Company’s Board of Directors has appointed Kim Stratton as the new Chief Executive Officer of Orphazyme, succeeding Anders Hinsby. Kim Stratton will take up her new position on October 1, 2019.
CTD Holdings, Inc. is pleased to announce the appointment of Mr. Michael Lisjak as Global Head of Regulatory Affairs and Senior Vice President for Business Development.
IntraBio is developing a number of small-molecule drug candidates that have broad applicability to rare and common neurological disorders, genetic, and inflammatory diseases. Their current lead drug candidate, IB1001, is initially being developed to treat three rare, genetic diseases where there are extremely high unmet medical needs: Niemann-Pick disease type C, GM2 Gangliosidosis (Tay-Sachs and Sandhoff Disease), and Ataxia-Telangiectasia (A-T; an inherited Cerebellar Ataxia). Click the link below for additional information.
Amicus Therapeutics and the University of Pennsylvania Announce Major Expansion of Gene Therapy Collaboration
Amicus Therapeutics, is pleased to share with the NNPDF, an update on their gene therapy research and development endeavors. This morning, Amicus Therapeutics and the Gene Therapy Program (GTP) in the Perelman School of Medicine at the University of Pennsylvania announced the expansion of their ongoing gene therapy research and development collaboration, adding the lysosomal disorders of Niemann-Pick Type C.
CTD Announces Participation and Support for Upcoming Gathering of Patient-Support Organizations for Niemann-Pick Disease type C. NNPDF is the US member organization of the International Niemann-Pick Disease Alliance (INPDA), working in partnership with national patient organizations globally and education and support for NPD families.
NNPDF is proud to be joining the Firefly Fund’s NPC Newborn Screening Working Group, focused on advancing the cause of newborn screening for NPC.
Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.
As mentioned in our recent NNPDF Industry Update Webinar Series, CTD Holdings, Inc. has released news on a plan to launch a clinical trial of Trappsol® Cyclo™ in Alzheimer’s disease.
This information is being shared as general information about a drug that is being studied in Niemann-Pick Disease. Any information the NNPDF posts is intended for the sole purpose of providing information to our community. Our primary objective is to provide you with useful information on an unbiased platform. Please don’t hesitate to contact our board chair, Justin Hopkin at email@example.com if you have any questions. Your information and input is always appreciated.
CTD Holdings is providing funding through NNPDF to support families with travel assistance to the upcoming NPC Externally-Led Patient-Focused Drug Development Meeting (PFDD). Support is intended for additional family members who would like to attend the meeting but are not eligible for subsidy otherwise. As the national patient organization, NNPDF is glad to assist in providing this support to the Niemann-Pick community.
Externally-led PFDD events are driven by people with NPC and their advocates to provide the FDA with personal perspectives and experiences from the community, including challenges faced on a daily basis in living with NPC and hopes for future treatments. It seeks to better emphasize the voice of the patient in the therapy development process so that these therapies are better tailored to the needs and preferences of patients.
For more information on how to apply for this financial assistance, please contact Laurie Turner, Family Services Manager at firstname.lastname@example.org.
For more information on the PFDD, or to register for the event, visit niemannpickc-pfdd.com.
Click here to read CTD Holdings press release.
New Year – New Look!
Notice something different about us? We’ve come a long way over the past few years, as a community and as an organization. Our logo has evolved with us over the past 26 years to reflect our Foundation’s history and various stages of development.
We began with a rainbow based on a drawing created by a child with Niemann-Pick Disease which symbolized hope. Over time as our organization grew, our Board worked to keep the spirit and inspiration of this original drawing as an underlying promise of hope.
Over the past 26 years, we have grown from just a few collaborating families to the national patient organization for the Niemann-Pick disease community, representing families from throughout the U.S. in all stages of their Niemann-Pick journey, with special focus on advocacy, family support and services, and research. We are so grateful to each family who has been a part of developing and sustaining our organization over the past 26 years through your combined volunteer efforts, resources and knowledge.
Today we are excited to launch our new logo – the next phase of the National Niemann-Pick Disease Foundation’s growth. This new image was designed to reflect the positive spirit of the community, to continue the hopeful nature of the rainbow’s arc, and to capture the essence of those who have passed with the butterfly image.
We’re debuting our new look with our January Newsletter, filled with important updates and the latest clinical trials and community information. You may need to clear your browser history or cache to see these awesome new changes on our website.
Our new logo and all coordinating images were designed by Jill Beirl, our talented Communications Manager, so please send her an email at email@example.com with your comments and support!
The NNPDF wishes you all the best in the New Year! We are excited for 2019 and are busy planning for upcoming events in the next weeks and months. Already on the calendar for January are our Family Services Connections Chats and Industry Updates Webinars. We will be participating in advocacy events such as Rare Disease Day in February. We will also be rolling out the new NNPDF logo soon so watch for those exciting changes to develop! We are looking forward to an impactful 2019 with our NPD community. Stay tuned for updates as they become available.
NNPDF Family Service Connections Chats
To register contact firstname.lastname@example.org
Who Is On Your Medical Team? Who’s the Captain?
Wednesday, January 16th
8:00 pm EST/5:00 pm PST
Sharing Your Diagnostic Journey
Wednesday, January 30th
8:00 pm EST/5:00 PST
NNPDF’s Family Services Connections Chats are small group video-chat discussions led by Laurie Turner, our Family Services Manager. Each Chat will focus on a different topic, as identified as a priority by our community members. Groups are limited to 5 participants in order to preserve a small, intimate space for all participants to share and discuss.
Industry Updates Webinar Series
Stay tuned for upcoming dates for our Industry Updates webinar series!
Rare Disease Day
February 28, 2019
Click here to see how you can participate! Personal profile pictures from the NNPDF will once again be offered, watch for upcoming details!
Industry Updates Webinar Series
Stay tuned for upcoming dates for our Industry Updates webinar series!
NPC Patient-Focused Drug Development Meeting
March 18, 2019 | Hyattsville, Maryland
Click here for information.
Click here for complete announcement.
OXFORD, UNITED KINGDOM / ACCESSWIRE / November 21, 2018
IntraBio Inc., a late-stage biopharmaceutical company developing novel therapies for rare (“orphan”) and common neurodegenerative diseases, announced that the US Food and Drug Administration (FDA) has granted Orphan Drug Designation to its lead compound series (IB1000s) for the treatment of Niemann-Pick disease Type C (NPC), a rare, devastating, neurovisceral autosomal-recessive inherited metabolic, lysosomal storage disorder that predominately affects pediatric patients.
IntraBio was previously granted Orphan Medicinal Drug Designation from the European Commission for IB1000s for the treatment of NPC.
Niemann-Pick disease Type C affects 1:100,000 live births and is most commonly caused by dysfunction of the NPC1 protein leading to the accumulation of lipids in lysosomes, resulting in impaired cell function and cell death in various organs, leading to a spectrum of symptoms in NPC patients. The disease typically begins in early childhood and is chronic and progressive in nature; motor and cognitive symptoms become more disabling over the course of the disease, negatively impacting the quality of life and leading to an increase in the utilization of health resources. Currently, the average age of death for NPC patients is approximately 10 years, with half of the patients dying before the age of 12.5 years.
“We are excited to have another therapeutic option being evaluated in the NPC community and look forward to working with IntraBio through the drug approval process” added Dr. Justin Hopkin, Board Chair of the National Niemann-Pick Disease Foundation (NNPDF) in the United States. “We are encouraged that this compound has received Orphan Drug Designation by the FDA, displaying the urgency of bringing treatments to the Niemann-Pick disease community, a rare disease community fighting for the lives of its loved ones.”
This orphan designation provides a number of regulatory benefits to IB1000s, such as a 25% tax credit for the costs of clinical development, a waiver for all prescription drug user fees at the time of marketing approval (approximately $2.5 Million dollars per indication), and 7 years’ exclusivity in the US from the date of marketing authorization.
The company is currently in the process of applying for multi-national, multi-center clinical trials with its lead asset (IB1001) for the treatment of Niemann-Pick disease Type C (NPC), GM2 Gangliosidosis (Tay-Sachs and Sandhoff disease) and inherited Cerebellar Ataxias (CA).
IntraBio, with its collaborators, has evaluated the effect of IB1000s in compassionate use studies in over 175 patients, forming the scientific basis for IB1000s to be further investigated for the treatment of 18 indications, including neurodegenerative diseases and lysosomal storage disorders. Future opportunities to further develop the IB1000s series in additional indications include Lewy Body Dementia, Restless Leg Syndrome, ALS, and Multiple Sclerosis, all of which of have high unmet medical needs.
IntraBio Inc. is a biopharmaceutical company with a late-stage drug pipeline including novel treatments for common and rare neurodegenerative diseases. IntraBio’s platform results from decades of research and investment at premier universities and institutions worldwide. IntraBio’s clinical programs leverage the expertise in lysosomal function and intracellular calcium signaling of its scientific founders from the University of Oxford and the University of Munich.
IntraBio’s management team and consultants have vast commercial experience and a successful track record of drug development in the USA and Europe. Together, IntraBio’s team translates innovative scientific research in the fields of lysosomal biology, autophagy, and neurology into novel drugs for a broad spectrum of neurodegenerative and genetic diseases to significantly improve the lives of patients and their families.
IntraBio Inc. is a U.S. corporation with its principal laboratory and offices in Oxford, United Kingdom.
Thank you to all who responded to our call for questions following last week’s announcement by Mallinckrodt regarding early phase data from their VTS-270 study. A comprehensive list of questions has now been submitted to the company (please see attached – grouped by subject matter for your convenience) and a response is expected the week of November 26th.
Please contact NNPDF for further information, by email email@example.com or telephone (920) 563-0930.
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 firstname.lastname@example.org 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.
Justin Hopkin, MD
NNPDF Board Chair
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 email@example.com.
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 firstname.lastname@example.org 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
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.
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.
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
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.
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, http://accredo.com, 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
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.