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Community News

Zevra Announces Completion of Acer Therapeutics Acquisition

Zevra announces the completion of its acquisition of Acer Therapeutics. Zevra states they are committed to the arimoclomol expanded access program as a much-needed treatment of NPC, and their goal is to resubmit the arimoclomol New Drug Application (NDA) to the FDA by the end of 2023. Read the complete announcement.

Please contact Joslyn Crowe, NNPDF Executive Director, with any questions.



Update from Bloomsbury Genetic Therapies

Bloomsbury Genetic Therapies Receives Orphan Drug Designations from the European Commission and the US FDA for BGT-NPC for the Treatment of Niemann-Pick Disease Type C and Provides Update on Type B Pre-IND Interaction with the US FDA

Bloomsbury Genetic Therapies Limited announced that the Company has received Orphan Drug Designations (ODD) from the US Food and Drug Administration (FDA) and the European Commission (EC) for BGT-NPC, an investigational gene therapy for the treatment of Niemann-Pick Disease Type C (NPC).

The Company also received a detailed Type B Pre-Investigational New Drug Application (IND) Written Response from the FDA, providing constructive feedback on the Company’s plans for chemistry, manufacturing, and controls (CMC), non-clinical and clinical development for BGT-NPC. Read the complete announcement.



Update from Cyclo Therapeutics, Inc.

Cyclo Therapeutics, Inc. is pleased to announce biotechnology company Applied Molecular Transport, Inc. (AMT) will merge with Cyclo Therapeutics. The team at Cyclo will lead the organization and continue to advance it’s important TransportNPC™ program forward. Read the complete announcement.



Community Statement from Kisbee Therapeutics

Kisbee Therapeutics has shared the following community statement with the NNPDF community. Read the complete statement.



Update from Mandos Health

Mandos Health has shared the following June 2023 update with the NNPDF community. Read the complete update.



Letter to the International NPC Community Introducing Bloomsbury Genetic Therapies

We are happy to share the following open letter to the International NPC community on behalf of Adrien Lemoine, co-founder & CEO of Bloomsbury Genetic Therapies, introducing Bloomsbury and sharing their plans and progress in developing a new gene therapy treatment for NPC.

Read the Open Letter to NPC Community
Read the Press Release: Bloomsbury Genetic Therapies Outlines Pre-Clinical Data on CNS Programs Presented at the American Society of Gene and Cell Therapy 26th Annual Meeting



The Niemann-Pick type diseases – A synopsis of inborn errors in sphingolipid and cholesterol metabolism

In this article Frank W. Pfrieger, PhD, provides a comprehensive description and detailed history of the Niemann-Pick diseases including a listing of all experimental therapies to date. Read the article.



Update from KemPharm

KemPharm demonstrates its continuing commitment to the Niemann-Pick Community with recent leadership changes. Read press release.



Update from KemPharm

KemPharm announces board and leadership changes to support its transformation into a leading rare disease company. Read complete announcement.

KemPharm also announces the promotions of Sven Guenther, PhD, to Chief Scientific Officer and Christal Mickle, MA, to Chief Product Development Officer. Read press release.



Updates from Azafaos

Azafaros receives FDA IND clearance and Fast Track Designation for its lead asset AZ-3102 for treatment of Niemann-Pick disease type C (NPC). Read complete announcement.

Azafaros also announces organizational changes within the company. Read press release.



Cyclo Therapeutics Announces Poster Presentation at the SIMD 44th Annual Meeting
Cyclo Therapeutics has announced its abstract has been accepted for poster presentation at the Society for Inherited Metabolic Disorders (SIMD) 44th Annual Meeting regarding TransportNPC. Read the complete announcement.



KemPharm Reports Third Quarter 2022 Results

KemPharm has shared the following news release with the NNPDF. Read news release.



Update from Mandos Health

Mandos Health has shared the following November 2022 update with the NNPDF. Read complete update.



KemPharm Supports Niemann-Pick Awareness Month During October and Global Niemann-Pick Awareness Day on October 19th

Read complete story.



Update from Mandos Health

Mandos Health has shared the following May 2022 update with the NNPDF. Read complete update.



Cyclo Therapeutics Letter to NPC Community
Cyclo Therapeutics has shared the following letter to the NPC community. Read the letter.



Orphazyme to sell to KemPharm, Inc.
NNPDF has received the following news from Orphazyme: Orphazyme A/S under In-Court-Restructuring to sell substantially all of its assets and business activities to KemPharm, Inc.

Read Orphazyme press release.
Read KemPharm press release.

We will continue to keep you informed as more information is available. If you have any questions, please contact Joslyn Crowe, NNPDF Executive Director, at



Cyclo Therapeutics has shared the following update with us.  While this is not specifically a patient event, it is open to the public and the community is welcome to join.

Read complete update.



Azafaros Announces FDA Grant of Orphan Drug Designation for AZ-3102 in the Treatment of Niemann-Pick Disease type C

Read complete announcement.



INPDA Letter on Arimoclomol to CHMP Members

The International Niemann-Pick Disease Alliance (INPDA) sent the following letter to the CHMP members at the European Medicines Agency (EMA) in advance of the upcoming review of Arimoclomol.

Thank you to the nearly 500 family members from around the world who signed their support as well! Read the letter.



Update from Orphazyme

Orphazyme has shared the following update has been shared with the NNPDF. Read complete update.



Update from Mandos Health

Mandos Health has shared the following January 2022 update with the NNPDF. Read complete update.


Duke-Margolis NPC Public Workshop Update

A reminder that a public workshop is being held by Duke-Margolis Center for Health Policy, sponsored by the FDA. It is a public workshop, and all are welcome to register to attend this virtual event. Participants will discuss clinical endpoints relevant to NPC clinical trials and innovative strategies to support therapeutic development for patients with NPC.

The event will be held on January 24, 2022 from 12:00pm – 3:30pm EST and January 25, 2022 from 12:00pm – 3:30pm EST. The public workshop is open to all, you can register here.

You may submit comments for this workshop to Docket FDA-2021-N-1297. Docket will be open until April 25, 2022.

Draft Agenda for NPC Public Workshop
Register for Virtual Workshop
Submit workshop comments: Docket FDA-2021-N-1297


Duke-Margolis NPC Public Workshop Update
On behalf of the NPC community and in conjunction with partner organizations, NNPDF sent the following letter to Dr. Mark Clellan regarding the January 2022 public workshop for endpoints consideration in drug development for Niemann-Pick type C. We are advocating to ensure that our families and expert clinicians voices are heard and incorporated into decision making and outcomes.

The public workshop on January 24-25, 2022 is open to all, you can register here.

Letter to Dr. Mark Clennan



EMA accepts regulatory submission for olipudase alfa
In today’s announcement, the European Medicines Agency (EMA) has accepted Sanofi’s regulatory submission for olipudase alfa, the first potential therapy for ASMD. Read complete update.


FDA and Duke-Margolis NPC Workshop
FDA and Duke-Margolis will host a virtual public workshop on January 24-25, 2022 on endpoint considerations to facilitate drug development for Niemann-Pick Type C. The workshop is open to the public. Learn more here.


Update from Mandos Health
The following update has been shared with the NNPDF from Mandos Health. Read complete update.


Global Niemann-Pick Awareness Day
In honor of Global Niemann-Pick Awareness Day NNPDF has shared an important message.


FDA Follow-Up from NPC Listening Session

Dear NPC Community Members,

As many of you know, on August 3, 2021, NNPDF along with other advocacy organizations took part in a listening session with representatives from the U.S. Food and Drug Administration (FDA). This session, which was held at the request of the FDA, gave members of the Niemann-Pick Type C (NPC) community an opportunity to share thoughts on the critical need for a treatment for NPC.

Following the meeting, the FDA received more than 100 emails from patients and family members calling for action to find a path forward for approval of treatments for NPC. Today we received the following communication from the FDA:

Dear NPC Community,
FDA has received more than one hundred emails from patients with NPC and their families calling on FDA to find a path forward for approval of treatments for NPC. FDA’s leadership thanks patients and families for taking the time to share their views with us, especially when there are disagreements. We heard loud and clear your risk tolerance and preferences at the recent patient listening session and will continue to factor that into our decision-making. Please know that we are not ignoring the needs of the NPC community – we see a devastating, relentless, disease that robs people of their lives and children. We will promptly approve any drug submitted to FDA that establishes effectiveness using flexible, feasible, efficient, and scientifically valid approaches and when those benefits outweigh the risks. We remain committed to working with you and the drug companies to advance therapies for this devastating disease.

Center for Drug Evaluation and Research
U.S. Food and Drug Administration

NNPDF remains committed to action that will lead to approved treatments for NPC as quickly as possible. As we continue to engage with the FDA, we will NOT slow down all of our efforts to fight for treatments and for access to care for all patients. We thank the patients and families who used their voices to help make sure that we are being heard. We must continue to work together to be successful!

Please find the original response from the FDA attached.


Joslyn Crowe, MSW, MA
NNPDF Executive Director

Read Summary Report


Update from Mandos Health
The following update has been shared with the NNPDF from Mandos Health. Read complete update.


Cyclo Therapeutics announces Chief Medical Officer, Lise Lund Kjems, MD, PhD
Cyclo Therapeutics is pleased to announce the appointment of Lise Lund Kjems, MD, PhD as Chief Medical Officer. Read complete announcement.


NPC Community Listening Session Summary Report
On August 3rd, another NPC Community Listening Session was held with the FDA. Thank you to our clinician and family speakers who participated. The Summary Report is now available and can be found on our website. We continue our outreach on these urgent topics with the FDA to ensure the patient and Niemann Pick community voice is heard. Read summary report.


Update from Mandos Health
The following information was shared with NNPDF by Mandos Health and is also available at Read complete update.


Message from NNPDF on FDA Meeting
As many of you may are aware, on August 3rd NNPDF together with ARPMF and INPDA held a listening session and discussion with the FDA. In this program, expert clinicians, patients and family speakers shared their perspectives on a range of important issues in the effort to find new treatments for NPC, including patient/caregiver preferences, risk tolerance, and opinions about use of the NPC clinical severity scale as a reliable and meaningful tool in clinical research. Our hope was that the FDA would hear our voices and recognize the critical need to be more flexible in reviewing drugs to treat NPC. You can find a copy of my remarks to the FDA here.

We were extremely frustrated by the FDA’s feedback and responses during the meeting. Despite hearing from many patients and parents that our community is willing to accept certain risks to continue to have access to treatments that are safe and we can see clearly are providing benefit, and despite hearing from both patients and medical experts that only 1 point of change is a meaningful measure of the NPC clinical severity scale, the FDA seems inflexible in considering new approaches in research and regulatory review that are essential to help make sure that a treatment can be available for our community as quickly as possible.

While this news is disappointing, it can and should inspire our community to work together like never before to make our voices heard. Together as organizers of the meeting, NNPDF, APMRF, and INPDA will be sending a written response to the FDA in the coming days with our perceptions of the meeting. This will be shared with the community as well.

Already NNPDF along with many other members of our community are inspired to take action in several ways, including:

  • Contacting our members of Congress to seek that they investigate why the FDA is continuing to ignore the needs of the NPC community and continuing to leave patients with no approved options for treatment.
  • Reaching out to the media to share our stories and to highlight the fact that FDA is ignoring our needs while patients continue to decline.
  • Being more active on social media to encourage more people – especially the entire rare disease community – to join in this important effort.

We are not giving up the fight, but we need everyone’s support to win this battle for NPC patients and families here and all around the world. Let’s unite to make our voices heard and let the FDA know that they can and must take the steps we have outlined to bring available treatments to patients who desperately need them.

Update from IntraBio
IntraBio reports statistically significant and clinically meaningful improvements in the use of IB1001 for treatment of GM2 Gangliosidosi. Multinational clinical trial is the first successful clinical trial for GM2 Gangliosidosis, favorable safety and efficacy data consistent with previously announced IB1001 clinical trial results for NPC. Read more.


Announcement from Mandos LLC
We’ve received the following information on Mandos LLC’s acquisition of Adrabetadex. Read here.


Adrabetadex Update from Mallinckrodt
We have received the following update from Mallinckrodt Pharmaceuticals regarding the sale of adrabetadex. Read more.


Letter from the FDA for the NPC community
We have received the following letter from the FDA for the Niemann-Pick type C community regarding expanded access to adrabetadex. Please contact with any questions or comments. Read more.


Mallinckrodt Pharmaceuticals Adrabetadex Announcement
Mallinckrodt Pharmaceuticals has reached an agreement to divest and transfer the Investigational New Drug (IND) application for experimental drug adrabetadex (VTS-270) to Mandos, LLC. Mallinckrodt plans to work with Mandos in an effort to secure production of additional drug supply for children who are suffering from Niemann-Pick disease Type C1. Click here for complete announcement.


Cyclo Therapeutics is pleased to announce the appointment of Lori McKenna Gorski as Global Head of Patient Advocacy. Formerly lead global communications and patient advocacy strategies for lysosomal storage disorders at Sanofi Genzyme, Ms. Gorski brings more than two decades of communications and patient advocacy experience serving rare disease communities. Click here for complete announcement.


Cyclo Therapeutics to Participate in Inaugural Emerging Growth Virtual Conference. Click here for complete announcement.


Cyclo Therapeutics Appoints Russ Belden as Acting Chief Commercial Officer. Click here for complete announcement.


Cyclo Therapeutics Appoints Gerald F. Cox, MD, PhD as Acting Chief Medical Officer. Click here for complete announcement.


Cyclo Therapeutics Unveils New Corporate Identity and Reaffirms Commitment to Improving Quality of Life and Providing Hope for Patients and Families. For complete announcement click here.


Orphazyme Year-End Message to the NPC Community. Click here for complete announcement.


Orphazyme Statement to the NPC Community regarding resignation of CEO Kim Stratton. Click here for complete announcement.


Cyclo Therapeutics Announces Pricing of $12.5 Million Public Offering. Click here for complete announcement.


National Niemann-Pick disease Foundation Recognizes Annual Global Niemann-Pick Awareness Day
Click here to read article.


Living Beyond My Rare Disease: Evren Ayik
Click here to read article recently published by The Mighty.


Mallinckrodt Pharmaceuticals Announcement
We have received the following letter from Mallinckrodt. Click here to read.


Edenbridge Pharmaceuticals announces the launch of its miglustat 100mg capsules.
Click here for complete announcement.


Miglustat improves swallowing in children and adolescents with Niemann-Pick type C1 disease

NIH observational study suggests that the drug may decrease risk of pneumonia and death in this population. Click here for complete article.


RARECAST Episode #298: Readying a Rare Disease Community for the Availability of Treatments

Podcast Alert! We’re proud to share NNPDF Executive Director, Joslyn Crowe’s, podcast episode on Global Genes RARECast where she speaks about how NNPDF is preparing the patient community for the availability of the first therapies for Niemann-Pick disease, the issues people will need to consider, and how families may think differently about their futures.



Sanofi Response to ASMD Community in the US

In response to NNPDF’s inquiries to Sanofi about access to olipudase alfa in the US, Sanofi has written the following response.

Click here to read the response.


Evox Therapeutics and Takeda sign multi-target rare disease collaboration. Read complete announcement.


Sarepta and StrideBio Announce Multi-target Strategic Collaboration to Advance Novel Gene Therapies
Sarepta Therapeutics, Inc. and StrideBio, Inc., today announced the signing of a collaboration and license agreement to develop in vivo AAV-based therapies for up to eight central nervous system (CNS) and neuromuscular targets. The parties also plan to focus on strategies intended to address re-dosing challenges in patients who have received AAV-delivered gene therapy. StrideBio will conduct all investigational new drug (IND) enabling research, development and manufacturing for the first four CNS targets, which include NPC1 (Niemann-Pick). Read complete announcement.


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. Read complete announcement.


NNPDF Announces Additional Support for its Emergency Hardship Program

Firefly Fund’s contribution will assist additional families in need

We are pleased to announce the Firefly Fund has become a donor to NNPDF’s Emergency Hardship Program. Our Emergency Hardship Program is open to US Niemann-Pick disease families facing an acute financial problem. It is supported by community donations, as well as partners including Cyclo Therapeutics, Firefly Fund, Mallinckrodt Pharmaceuticals, Orphazyme, and Sanofi Genzyme.

NNPDF’s Emergency Hardship Program provides short term financial assistance in a crisis situation. Funding is available for up to $1,000 per calendar year per eligible member. Families with multiple children with Niemann-Pick disease are eligible to apply for each affected individual. Funding includes but is not limited to, specialized medical equipment, durable medical goods, utility bills (heating, cooling, electricity, phone, water and sewer), home and car repairs, rent and mortgage payments, and bereavement expenses.

“Many families in Niemann-Pick community are already facing financial pressures associated with battling a rare disease. The economic and medical stressors compounded by the COVID-19 pandemic increase the need for, and use of, our emergency fund. The Firefly Fund’s commitment to NNPDF will help us provide relief to additional Niemann-Pick Type C families and help ease the burden families are facing,” stated Joslyn Crowe, NNPDF Executive Director.

Click here to learn more about our Emergency Hardship Program or contact Laurie Turner, Family Services Manager.

The National Niemann-Pick disease Foundation, Inc. (NNPDF) is a non-profit patient advocacy and family support organization dedicated to supporting and empowering patients and families affected by Niemann-Pick disease, through education, collaboration and research. Founded in 1992, NNPDF serves families throughout the nation at all stages of their Niemann-Pick journey. NNPDF is the US member organization of the International Niemann-Pick disease Alliance (INPDA).


Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases: Co-Author Dr. Andy Lieberman

In a recent article in the BMC Medicine, NNPDF Scientific Advisory Board Chair Dr. Andrew Liberman Co-Authors research on “Synthetic high-density lipoprotein nanoparticles for the treatment of Niemann–Pick diseases”. Click here for complete article.


Historic News: First-Ever NPC Newborn Screening Pilot Study

It’s official! The ScreenPlus program in New York state that will include NPC received a major award from the National Institutes of Health that will allow the program to move forward. ScreenPlus is the most expansive consented pilot newborn screening study in the country, where families of newborns born at 8 New York hospitals will be offered the option to have their babies screened for an additional 13 disorders – including Niemann-Pick C. This is the first time any newborn, anywhere in the world, will be given the option of being screened for NPC at birth.

The Firefly Fund’s NPC Newborn Screening Working Group member Dr. Melissa Wasserstein of Montefiore Hospital in NY is leading the study. And Firefly is one of the funders supporting the program through a unique cost-sharing collaboration that also includes academic centers and several pharmaceutical companies.

NNPDF joins Firefly, all its Working Group members and supporting NPC stakeholders in congratulating Dr. Wasserstein on this major accomplishment. This study is history-in-the-making as the NPC community will begin to gather evidence regarding the importance of early diagnosis and intervention in the treatment of NPC. Learn more by clicking on this official announcement – and share the news with your networks!


Cyclo Therapeutics Announces Support for The Firefly Fund’s Newborn Screening Program

Cyclo Therapeutics has shared the following news with us: Cyclo Therapeutics Announces Support for The Firefly Fund’s Newborn Screening Program.

Newborn screening is important to early awareness of Niemann-Pick disease. NNPDF is a proud member of the Firefly Fund ‘s NPC Newborn Screening Working Group – a broad community coalition dedicated to advancing newborn screening for NPD in the US. To read more, follow the link below.



CTD Holdings Announces Completion of Name Change to Cyclo Therapeutics, Inc.

CTD Holdings, Inc. today announced today that it has completed its name change from CTD Holdings, Inc. to Cyclo Therapeutics, Inc. The new name better reflects the company’s business as a biotechnology company. To read more, follow the link below.



CTD Holdings to Present at the 2019 NPUK Family Conference

CTD Holdings, Inc. today announced that the company will present on its clinical and drug development program for the orphan drug, Trappsol(R) Cyclo(TM), at the Niemann-Pick UK (NPUK) 10th Interactive Workshop on Niemann-Pick diseases and the 26th Annual NPUK Family Conference. The conference brings together patients, families, caregivers, scientists, and health professionals for the purposes of learning about advances in NPC clinical trials and providing opportunities for community learning, sharing and support.


CTD Holdings Interview to Air on Bloomberg International on the RedChip Money Report

CTD Holdings, Inc. announced an interview with Company Chair and CEO N. Scott Fine will air on The RedChip Money Report television program. The interview will air Sunday, September 8, on Bloomberg International.

In the exclusive interview, Fine discusses the Company’s use of Trappsol® Cyclo™, an orphan drug designated product in the United States and Europe, which is used to treat Niemann-Pick disease Type C.


NNPDF follow up statement to Mallinckrodt’s responses to VTS-270 301 questions from the NPC community

Dear Friends,

As Mallinckrodt has shared with us, their US trials are still active and ongoing, however we recognize that many community members are looking for ways to advocate and have their voice heard. NNPDF will collect impact statements from families involved in the trial, detailing their experience with the drug, any positive differences they see, their experience with the delivery method and any challenges they have faced.

If you would be like to submit a statement of family/caregiver observations of the impact of adrabetadex (VTS 270) on your family member for possible use to support discussions with regulatory and/or any awareness raising activities that may take place in the future, please send it to the NNPDF office at All statements will be anonymized and will help to highlight the impact on patients and families.

Message from NNPDF about Mallinckrodt Phase 2b/3 study VTS301

Dear Friends,

This week Mallinckrodt Pharmaceuticals released news that their open label extension portion of the Phase 2b/3 study VTS301 has been suspended in the UK and France. At this time, clinical trial sites for Study VTS301 in the US and all other countries remain open. While there is no change to the trials or expanded access program here in the US at this point, we understand that news like this can still create anxiety over the unknown.

One thing we can assure you of is that the NNPDF is committed to working in the best interests of the patients we represent to assist each of our industry partners through the drug development process. We are communicating with Mallinckrodt as they initiate their next steps and have expressed our willingness to assist them through patient advocacy as part of the working relationship we have with all our partners.

Over the last two years you have come together as a community to build and strengthen our collective patient group for moments like this. NNPDF works hard to build and maintain relationships with all industry partners so that we can connect your voice and preferences directly to them. We understand the value the FDA places on the patient voice and will be that conduit, as the national patient organization, for the community when our voice needs to be heard.

At our upcoming NNPDF Family Support & Medical Conference this month we have sessions prepared that will discuss issues like the Regulatory Process, the Path of Drug Development to Market, and Navigating Insurance and Benefits, including what these issues mean to the community and how to best advocate on them. We will have clinical trials presentations from all industry partners, including Mallinckrodt, followed by question and answer sessions. In the meantime, we will keep you updated on all information that is shared with us by Mallinckrodt and, as the US member of the International Niemann-Pick disease Alliance (INPDA), we will keep you up to date on the global activity on this trial and all clinical trials as needed.

Justin Hopkin, MD
Board Chair

Joslyn Crowe
Executive Director


Orphazyme Appoints Kim Stratton as Chief Executive Officer

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. Appoints Head of Global Affairs

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.


CTD Holdings, Inc. Announces Closing on $7.4 Million Private Placement


IntraBio IB1001 Series Update

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 Holdings, Inc. Announces Participation and Support at INPDA Conference

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 to Join National Effort to Add NPC to Newborn Screening Lists

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.



National Institutes of Health shares Survival Data in NPC Natural History Study

Evaluation of age of death in Niemann-Pick disease, type C: Utility of disease support group websites to understand natural history.



CTD Holdings, Inc. Announces Plans for Clinical Trial of Trappsol® Cyclo™ in Alzheimer’s Disease

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 if you have any questions. Your information and input is always appreciated.

Additional Travel Funding For Those Participating in PFDD Meeting

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

For more information on the PFDD, or to register for the event, visit

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 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.

Upcoming Events:

NNPDF Family Service Connections Chats
To register contact

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
Dates TBA
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
Dates TBA
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.

1/2/2019 jjb

Mallinckrodt Plans Spin-Off of Specialty Generics Business to Shareholders

Click here for complete announcement.

12/06/2018 jjb

IntraBio Receives Niemann-Pick disease Orphan Drug Designation from the FDA for IB1000 Series


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.

About IntraBio

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.

For further information please contact:
Cass Fields

SOURCE: IntraBio

11/26/2018 jjb

Mallinckrodt Update: Questions Submitted to Mallinckrodt

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 or telephone (920) 563-0930.

11/15/2018 jjb

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 nnpdf@nnpdf.orgby 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

KemPharm Reports Third Quarter 2022 Results

KemPharm has shared the following news release with the NNPDF. Read news release.



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