Message from the INPDA President
It has been a busy time for the INPDA and it’s member organizations since our February 2022 newsletter. Following on 2 years of restrictions due to COVID 19, members have been able to host events in support of rare disease day, resume in person family meetings, participate in advocacy events and return to fundraising activities. I want to thank all of the people who have worked diligently on all of these activities.
There have also been changes in the landscape around drug development and progress towards treatment options for Niemann-Pick Disease. In the NPC space, the development of Arimoclomol has transitioned from Orphazyme to KemPharm. I want to thank the team at Orphazyme for all of their work and support over the years. The time and energy invested by the team at Orphazyme in Arimoclomol and the Niemann-Pick community is greatly appreciated and have provided valuable building blocks for the community moving forward. I welcome the team from KemPharm to the Niemann-Pick community and look forward to working with them as they move forward. For ASMD, Xenpozyme (Olipudase Alfa) has been approved by regulatory authorities in Japan for the treatment of adult and paediatric patients with non central nervous system manifestations of ASMD. Applications for this drug are currently under review with both the EMA and FDA.
I am looking forward to the INPDA Face to Face Meeting to be held in Orlando Florida July 29 - July 31, 2022 hosted by the NNPDF. Although travel has remained a challenge we have been able to structure the meeting in a hybrid format so that our members will be able to participate in clinical, research, and pharmaceutical updates along with opportunities for the INPDA members along with clinicians researchers and represent from pharmaceutical industry to work together to identify opportunities and continue to build on our work plan and priorities. I look forward to seeing all of our members and having a very productive meeting.
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As always there is much work to do for all of us in the INPDA, raising awareness and understanding of Niemann-Pick Disease with clinicians, funders and regulatory authorities, improving the path to diagnosis, building capacity within our members to address the needs of their local community, access to treatments, continuing to build the network of global patient support organizations, and much more. It seems like a long list but every step, even small ones, move us forward on the path to changing the road ahead for those with Niemann-Pick Disease and their families.
Please take a few minutes to read through the updates in this newsletter, celebrate the successes, learn from one another and keep moving forward.
Thank you all for all that you do, it is worth more than I can say.
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Australian NPC Disease Foundation Inc.
Recently, after 4 postponements, we were finally able to run our 2nd Charity Gala at the Flemington Racecourse in Melbourne in February 2022. It was a fantastic night with over 600 people in attendance, raising a little over $50k net for research conducted in Melbourne for NPC. We pulled out all the stops to ensure our guests had a fabulous night, including dancers, a live street artist, room-wide bingo game, virtual horse race, raffle and auctions. With over half the room admitting that it was their first interaction with NPC, we were proud to have achieved a great event for both awareness, networking, and fundraising. Read the full article here.
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Left to right: Mark Walterfang, Ya Hui Hung, Deanna Carpino, Mandy Whitechurch |
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We are hosting our 3rd Annual NPC Conference in Australia which will be available to attend online and in-person at The Florey Institute of Neuroscience and Mental Health on June 24th. The conference will primarily deliver industry updates and information to patients and families. Via the afternoon workshop, we will also be collating key insights from clinicians and patients in attendance, to customize the global NPC care plan for Australia. Learn more or buy virtual tickets here.
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Vaincre les Maladies Lysosomales
VML Family Meeting
After two years of abstention, VML had a Family meeting on the week end of 27th June 2022. For many families the principle of this meeting is widely known. It is different for all those who have joined us since 2019. The meeting is a key event in the life of our association. Around a program of scientific, medical and social information, it is a rich moment of exchanges. Big or small, everyone can come and draw positive energy and feel much less alone.
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Funding for Research: Since 1992 VML finance projects for research.
VML association has launched its 2022 scientific call for tenders in order to support research projects in the following areas:
- Gene and cell therapies in lysosomal storage diseases. All innovative biotherapy approaches acting indirectly on genes may be considered.
- Other therapeutic approaches
- Understanding of pathophysiological mechanisms
- Improving patient care and quality of life on a daily basis.
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Solidarity and Events
Mont Blanc Marathon June 2022. Running to Conquer disease, the greatest reward! You run... Your friends support you... We advance research and increase hope for the cure!
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Niemann-Pick Selbthilfegruppe
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On April 26, 1997, the first meeting of families affected by Niemann-Pick disease took place in Germany. Thanks to the tireless search for affected people by the founders families Grillenberger and Fabianski, 8 persons came to the first meeting in Wandersleben near Erfurt and were able to exchange information for the first time about this almost unknown rare disease of their children.
From then on, meetings were held annually with a steadily growing number of members. In 2022, after 25 years, the 19 members who had already met in 1998 have become over 170 members, both family and individual members, who support each other and make a not inconsiderable contribution to further research into Niemann-Pick disease.
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Despite the tremendous advances in knowledge that have been achieved since 1997 for families affected by Niemann-Pick, despite the numerous research approaches and worldwide drug trials that have now been conducted, there is still no cure for this devastating disease. The goals set 25 years ago are still valid and the support group has an important role in the search for a therapy. And no family should feel left alone after the diagnosis! |
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The annual family meeting of the German self-help group took place via online event on 04/30/2022. This year the members were able to inform themselves about all current topics concerning niemann-pick, studies and research and also had the opportunity to exchange with each other at home. Fortunately, the event was very well received, even though it does not replace a presence event. We would like to continue regular online meetings to keep in touch with each other and are considering hybrid events in the future to get all members who do not have the possibility to participate personally or to travel. |
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Niemann-Pick Foundation
of Spain
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Hello everyone! This quarter has been intense for the Niemann-Pick Foundation of Spain. As you know, during February we were focused on National Niemann-Pick Day (February 17th) and on the World Rare Disease Day (February 28th). On the World Rare Disease Day, we collaborate and participate in a lot of activities that were organized nationally and internationally. It’s very important for all of us to be able to keep in touch with entities that work with rare diseases to know the news, the treatments and the trials that are carried out to improve the quality of life of those affected by Niemann-Pick and ASMD. |
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During the World Rare Disease Day, Julia González, our family coordinator and legal representative, and Manolo Campos, patron of our Foundation, attended the main act of the event in Lleida, organized by FEDER and the Platform “Malalties Minoritàries” from Catalonia. |
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In March, we have already begun to prepare our XXII Congress, but we have continued to participate in more activities, such as, for example, attending the Institutional act for the World Day of Rare Diseases in Andalucía in the Andalusian Parliament, which was attended by patron and delegate in Sevilla, Juana Contreras.
Also, in March, we participated in a webinar organized by the ASMD Spain about "The importance of Patient Registries in rare diseases" with Dolores Ledesma and Dr. Jesús Villarubia.
In April, we participated, in person, in the Congress of Orphan Drugs and Rare Diseases 2022, in Sevilla. It was a highly prestigious congress, with... READ COMPLETE UPDATE
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NPSuisse is organizing on behalf of INPDA a NBS booth with the support of Firefly Fund USA at the SSIEM (SOCIETY FOR THE STUDY OF INBORN ERRORS OF METABOLISM) annual Symposium end of August beginning of September 2022 in Freiburg Germany.
Furthermore, NPSuisse has started the organization of the Loire Valley Meeting 2022 (21st - 24th October). Some new scientists will join the LVM Society.
Christoph Poincilit
President of NPSuisse
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Niemann-Pick UK
Since the last INPDA Newsletter in February 2022, here at NPUK HQ we have been super busy. Currently, our team and incredible community are getting very excited about our upcoming Annual Family Conference and Interactive Workshop, which is returning to its “in-person” format this year in October. As you may know the Conference is the biggest event in the NPUK calendar, and a great opportunity for NP families to meet together in one place along with health professionals, clinicians and others working in the NPD field, allowing conversations and learning from both NP families and medical professionals. Although we have had smaller meetups over the last two years when restrictions allowed, this will be the first large scale event since March 2020 … and we cannot wait! Although the Conference will take place in-person at our home away from home, Wyboston Lakes Bedfordshire, we intend to use some of the lessons learned from our Digital Annual Family Conference in 2020, to offer a hybrid version of the Conference. We hope this means that as many of the Niemann-Pick community across the globe can attend in one way or another!
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As you might remember, in December 2021 we released our short film Invisible Manners. Invisible Manners is a short, animated film, developed closely with the Niemann-Pick community, and the wider rare disease network. We are already so pleased with the success this short film has had, and it has meant so much to our team when individuals have reached out with positive comments about the film or shared it with others. Invisible Manners has also won numerous awards since its release including “Best Inspirational Film” at Florence Film Awards 2022 and “Best First Time Director” at Best Istanbul Film Festival 2022.
We are now very pleased to share that we are working on a new project as part of the “Invisible” campaign, Invisible Interviews. Invisible Interviews is a documentary short film series, which we hope to be a companion piece to Invisible Manners. We will be sharing interviews with four members of the NPUK community, which we hope will provide a deeper look into the patient/family experience, offering an insight into the narrated poem which featured in Invisible Manners. The massively talented animator, Lingxi Zhang, who created the animation for Invisible Manners, is joining us once more, animating the opening sequences for Invisible Interviews. As always, we will be updating our community often on the progress of this project, so make sure to follow the NPUK Facebook page for the latest updates!
In March we had two new members join the NPUK Staff Team: Rares Danciu, who joined us in the role of Social Media Assistant, and Rhys Williams, who is our new Administration Assistant! They have both joined the team for six months, and we are loving having these new additions to the NPUK Community, they both bring so much energy and enthusiasm to their respective roles.
We are looking forward to seeing what the rest of this year will hold for our community, and we want to send lots of love to the entire Niemann-Pick community across the globe.
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National Niemann-Pick
Disease Foundation
The NNPDF Family Support & Medical Conference is almost here! From July 28-31st, families, clinicians, researchers, and supporters will join in Orlando, Florida for a few days of learning and sharing. We are most excited to host this year’s conference in conjunction with the INPDA biennial meeting. For more information on the conference sessions and events, or to sign up to attend virtually (or in-person), visit nnpdfconf.org.
Following the workshop on Endpoint Considerations to Facilitate Drug Development for Niemann-Pick Type C (NPC) hosted by the Duke-Margolis Center for Health and the U.S. Food & Drug Administration (FDA) in January 2022, the official summary document was recently released. As a next step, a brief webinar will be held by the Duke Margolis Center for Health, along with the FDA on Thursday, August 4th, from 3:00 - 4:00 pm ET to provide an overview of the key themes and future directions shared during the January 2022 workshop and presented in this newly released workshop summary report. The webinar is intended to be another touchpoint for NPC drug development stakeholders on this important topic. Stakeholders will be able to submit questions about the workshop summary in advance of the webinar using this form, and we will get to as many as we can in the webinar format. Please note that the webinar is not intended to cover any new content beyond the January workshop and the workshop summary.
NNPDF continues to support Rare Disease Advisory Council’s (RDAC) across the country. RDACs give rare disease community members a unified voice in state government and provide a valuable resource to elected officials on rare disease education and challenges. Currently, only 21 states have RDACs. NNPDF has signed on to RDAC’s in the states of Georgia, Mississippi, and Wisconsin. Read the letters and learn more about this issue.
NNPDF recently partnered with INPDR, INPDA, and NPUK to conduct a survey on “The impacts of olipudase alfa on pediatric patients with ASMD and their families.” Thank you to all the families who participated in this important research study. The results were shared publicly on an NNPDF Community Update webinar in May and were shared with key opinion leaders in the US. You can view the original presentation here.
A survey of NNPDF members is currently underway. This brief survey is designed to highlight some of the key issues that are important to members of the NPD community. Responses will help NNPDF develop a better understanding of the issues that are most important to our members and families. Responses will be used to help NNPDF identify the priorities and areas of unmet need in planning for development of new support programs and resources for families at every stage of the NPD journey.
We are pleased to announce Dr. Janet Maynard, Director, Office of Orphan Products Development, U.S. Food and Drug Administration (FDA) as our keynote address speaker at our upcoming 30th Annual Family Support & Medical conference. Dr. Maynard will share her insights in the Keynote Address: Challenges and Opportunities in Rare Disease.
We look forward to seeing you there! Register now at nnpdfconf.org.
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Pfrieger's Digest
We are pleased to share the latest edition of Pfrieger’s Digest, written by Frank Pfrieger, PhD of Niemann-Pick Selbsthiifegruppe (Germany). This publication provides a summary of research advances based on selected peer-reviewed publications in scientific journals. Read the latest issue.
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Therapeutic Updates
Research and clinical trials are currently in progress to study and develop treatments for ASMD and NPC. Click the links below for individual updates.
Azafaros:
We would like to first thank the INPDA for the opportunity to introduce Azafaros to the international Niemann Pick community. We know from experience how strong and well-organized this community is, and we are looking forward to collaborating... READ MORE
Cyclo Therapeutics:
Cyclo Therapeutics is currently enrolling patients in TransportNPC™, a global, pivotal Phase 3 study evaluating Trappsol® Cyclo™ (hydroxypropyl-beta-cyclodextrin) in Pediatric and Adult Patients with Niemann-Pick Disease Type C1. More information can be found here.
IntraBio Inc.:
IntraBio Inc. is pleased to announce the commencement of its Pivotal Trial: IB1001-301, “Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study.” The trial will... READ MORE
KemPharm:
Following KemPharm Inc.’s (“KemPharm”) recent purchase of substantially all of the assets of Orphazyme A/S (in restructuring), including the product candidate arimoclomol intended for the treatment of Niemann-Pick Disease Type C (NPC), the company... READ MORE
Mandos Health:
It’s been a little while since we provided our last communication back in February and we’re excited to share three important updates on our progress.
• We have completed our first meeting with the U.S. Food & Drug... READ MORE
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Multi-language Resource
As we all continue to navigate challenges related to Covid-19, we thought this may be a helpful resource. Public Health England has provided Covid-19 Updates in several different languages. If you consider this a helpful resource for you and your organization, please feel free to share this link.
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Who We are
The International Niemann-Pick Disease Alliance (INPDA) is a global network of non-profit organizations working in the field of Niemann-Pick disease (NPD). The alliance was formed in 2009 to provide a forum for patient groups and professionals working in the field of NPD.
In the 1990s, when a person was diagnosed with NPD they were told they would never meet anyone else affected, as the conditions are so rare. But people directly impacted by the disease – patients themselves, their family members and friends – began setting up support groups, connecting families and drawing in impassioned and dedicated people to fight their corner, determined that no family diagnosed with NPD should face the future alone.
Today, we have an international network of non-profit groups, supporting hundreds of families, and we continue to grow. By joining together through the INPDA, we give Niemann-Pick diseases a stronger global voice, and progress towards effective treatments for these conditions is accelerated.
Our Aims
The INPDA’s overall mission is to relieve sickness and distress among families affected by Niemann-Pick Diseases worldwide.
We will achieve this by sharing expertise, knowledge and skills across our network, providing mutual support between patient groups, improving information and awareness of NPD, and stimulating research.
Our network enables connections, bringing together people who can make a difference for this group of devastating rare conditions.
For more information on what we’re doing to achieve these aims, see Our Work.
INPDA Executive Committee
President: Sandy Cowie (Canada)
Vice President: Joslyn Crowe (USA)
Executive Secretary: Toni Mathieson (UK)
Executive Communications Officer: Lisa Chavez (USA)
The INPDA would like to thank all of those who contributed to this newsletter. If you would like to include an update in the June 2022 edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by May 15, 2022.
For a complete list of all INPDA members please click here.
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International Niemann-Pick Disease Alliance |
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DISCLAIMER: The National Niemann-Pick Disease Foundation (NNPDF) does not engage in the practice of medicine. It is not a medical authority nor does it claim to have medical knowledge. The NNPDF web site is an educational service of the National Niemann-Pick Disease Foundation and is not meant to provide diagnostic or treatment advice. Information contained or suggested on our web site does not constitute medical advice. For all information related to care, medication or treatment, the NNPDF recommends consulting a physician to determine if information presented is applicable
This newsletter is a service of the National Niemann-Pick Disease Foundation's Family Services Program, made possible by the financial support of our member families and other generous donors and grantors. The NNPDF receives no government funding, nor does it host or receive funding from advertising or from the display of commercial content.
The National Niemann-Pick Disease Foundation is a 501(c)(3) organization. Your donations are fully tax-deductible.
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