Message from the INPDA President
Happy New Year! I know it is a little late for new year wishes but there is so much for us to look forward to in 2023. The past two years have been challenging for all.
Despite those challenges, progress continues to be made and the new year shows promise for new opportunities. There is the ongoing regulatory submissions and health technology assessments(HTA) for Xenpozyme (olipudase alfa), the enzyme replacement therapy (ERT) for the treatment of ASMD, which was recently approved in the United States, Brazil, Japan, and Germany. There are active clinical trials and ongoing development work occurring in for Niemann-Pick disease type C. There is a strong global community of researchers and clinicians in the field of Niemann-Pick diseases and new researchers entering the field.
We have had new members join the INPDA, expanding our global reach and helping to continue to build our community. Our members continue to do excellent work supporting their communities as evidenced by the updates included in this newsletter.
We also have the International Niemann-Pick Disease Registry (INPDR) continuing to grow and develop into an invaluable tool to support research and the understanding of Niemann Pick diseases.
Finally, after two years of disruption due to Covid restrictions we are planning an INPDA Face-to-Face meeting in Spain November 4-6, 2023. I look forward to the opportunity for representatives from all our member organizations to be able to gather in person as we build on our partnerships, share our learnings and identify our priorities for the future.
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February ends with Rare Disease Day on February 28, a day dedicated to raising awareness of rare diseases. Increasing awareness has been a key aim of the INPDA since its inception. The INPDA and its member organizations continue to work together to raise awareness, promote research and ultimately alter the path ahead for all living with Niemann-Pick diseases. Please take the opportunity on February 28 to raise awareness, by sharing a post from the INPDA social media feeds or simply asking those you know to check out the INPDA website at INPDA.org.
I am looking forward to a year of progress for our global community. I thank all of you for your support as we continue our mission to change the path forward for all living with Niemann- Pick diseases.
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Belgian Organization for Children and Adults with a Metabolic Disorder
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BOKS stands for the Belgian organization for children and adults with a metabolic disorder. We are an umbrella organization for all rare metabolic disorders, as individually they are too infrequent to start a separate patient organization in a small country like Belgium. In 1987 the parents of two brothers received the diagnosis of their children’s life-threatening metabolic disorder. In their search to find the best possible support, they experienced several administrative problems as their situation was so unusual. After meeting other families facing similar problems, they felt that things needed to be changed and realized that improvements could only be achieved by working together with other patients and their families. So, this brave couple decided to create a patient organization called BOKS, the founding of which took place in 1994. |
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Since the launch of the organization in 1994 it has grown steadily and today it represents 900 patients across 187 different metabolic diseases, divided over different working groups. We work around a number of key pillars like patient advocacy. We provide information for patients and their families, bring patients together in all kinds of activities and we try to support patients and their families after their diagnosis... READ MORE
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Niemann-Pick Canada
First, Niemann-Pick Canada wishes everyone a happy and healthy 2023. Each year that passes we can reflect on the progress we have all made together towards the fight against Niemann-Pick Diseases. It also allows us to look ahead at all the work yet to be done. Niemann-Pick Canada is proud that 2022 saw two significant publications specific to Niemann-Pick Type C. The University of Michigan (Dr. M. Schultz and Dr. A. Lieberman et al.) published “Species -specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease” in JCI Insight. In addition, Dr. E. Ivakine and S. Erwood PhD with The Hospital for Sick Children in Toronto, Canada published “Saturation variant interpretation using CRISPR prime editing” in Nature Biotechnology. We remain extremely grateful to our dedicated donors that have stuck with us through the COVID-19 pandemic with no in-person fundraising events. We are happy to say we have raised close to 4M for Niemann-Pick research since 2016, a significant milestone we hope to surpass in 2023.
For Rare Disease Day, NP Canada was invited to participate in a media interview regarding ASMD as part of a rare disease awareness campaign for use in print and electronic news media in Canada. The article will be available in English and French. We look forward to sharing a link to the article once it is available.
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Vaincre les Maladies Lysosomales
A very Happy and Successful 2023 to all!
VML is working on a new website which will be shortly in place. It is designed to be more user friendly and secure for the public and for the members. A specific forum page will be available for the members.
Research: 5 Projects have been selected by tender in 2022 for Lysosomal diseases for a financing amount of €149,000. Although research projects are generally associated with a particular pathology, we know that each advance, each new understanding contributes to advancing the cause of all our lysosomal storage diseases. This is why our common commitment for all lysosomal storage diseases is useful and effective for all - RARE but not Alone.
In a proactive approach, the VML association has set itself three missions for the benefit of the greatest number:
- Advance research and improve access to care
- Provide certified and appropriate scientific and medical information
- Accompany and help families in their adaptation to illness and disability
Mont-Blanc Marathon 2023/CHARITY BIB: 2023 10th edition of the Charity program - Run for rare diseases with the French association Lysosome - Vaincre les Maladies Lysosomales. For the 10th consecutive year, some fifty runners will take the start of the Marathon du Mont-Blanc events to support our action. €300,000 has already been raised thanks to supporters of the solidarity bibs.
VML will attend the “World Symposium 2023” on Lysosomal Diseases which will be held in February and the VML family meeting has been confirmed for the weekend of May 19th, 2023, and will be held in Lyon.
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Niemann-Pick Selbsthilfegruppe
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Niemann Pick Selbsthilfegruppe would like to share the details of their upcoming family conference. Please join us, several of our presentations will be translated into English. |
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ASMD Espana
We have started this year with very good news for ASMD Spanish patients. After more than 1 year waiting, first patients that had applied for Xenpozyme compassionate use have started with the treatment.
At the end of 2022 we have started our “ASMD Patient Educational Program” in order to empower ASMD patients and their families. Clinicians, scientists, nurses, dieticians, lawyers will participate in educational specific sessions and workshops. They will share their knowledge with the aim to educate patients about their health and their rights.
We want to continue this project during 2023 and there will be two special workshops matching Rare Disease Day and Niemann-Pick World Day.
Best Regards,
Daniel
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Niemann-Pick Foundation
of Spain
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Hello everyone!
We want to start this update wishing a happy, warm and peaceful new year 2023 to all the people who read the INPDA’s newsletter. We are sure that it will be a year with new challenges and new objectives for all of us.
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At the Niemann-Pick Foundation in Spain, after the summer holidays, we came back to our usual activity helping to prepare one of the most important events for us, la Nocturna de Toledo. On Saturday, November 22nd, nearly 4.000 athletes from different parts of Spain (and some from foreign countries) met in Toledo to enjoy and collaborate with the cause of our foundation. It is a pride for us that the Nocturna de Toledo has celebrated its XV Edition this year. Thanks, from here, to all those who make it possible: Rubén, collaborators, sponsors and, above all, to the participants. See you in Toledo in October 2023!
In addition, in October we also attended the annual NPUK conference in Wyboston Lakes. It was a fantastic opportunity to meet again with all the people we love in United Kingdom, to see our friends again and, above all, to return to Spain after two days of intensity work in which we learned and shared the new advances in the disease and in the clinical trials... READ MORE
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We are working on a new organization of the LVM (no more at the Loire). Until March we should have a new concept.
Christoph Poincilit
President of NPSuisse
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Niemann-Pick UK
On behalf of Niemann-Pick UK, we would like to extend our warmest and most sincere wishes for a happy and prosperous New Year to all in the INPDA community.
We are proud to reflect on our achievements in 2022, including our continued support for patients and families living with Niemann-Pick diseases and for our Reflections Families, who live with the loss of a loved one. In our recently released short film, “Nadia’s Story”, we focus on one family’s journey from diagnosis to bereavement, as mum Nadia reflects on the impact Niemann-Pick type C has had on her family. This is the second of four short documentary films in our “Invisible Interviews” series, providing an intimate look into the lives of individuals affected by Niemann-Pick disease and their families. The series delves into the personal struggles, successes, and experiences of those who have been impacted by this rare and debilitating condition.
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The first film in the series told “Graham’s Story’ and you can view this, along with ‘Nadia’ Story, on our NPUK YouTube channel by clicking here. Look out for the release, of ”Helen and Hollie’s Story” in February, followed by ”Gail and Alec’s Story” in April. Invisible Interviews is a companion piece to our 2021 animated short film, ”Invisible Manners”, which also included many voices from the rare disease community. We hope that the “Invisible Interviews” series will bring attention to the struggles of those affected by Niemann-Pick disease, and inspire others to support our mission to find a cure. We hope you will share these with your communities, and we look forward to your thoughts and feedback.
2022 also saw a return of our much-loved Annual Family Conference, where we felt the warmth of friendship and togetherness once again. It was great to be back to in-person conferencing and it reminded us all of how much we value our time together, to share our experiences, to learn and to support each other. Our conference dates for 2023 are now confirmed and we very much hope to see you there, from 24th-26th November, at Wyboston Lakes, Bedfordshire, UK.
We have been pleased to partner with the International Niemann-Pick Disease Registry (INPDR), NNPDF and the INPDA in conducting a study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients, which will explore the questions in this survey in more depth. Interviews will be conducted by Rare Disease Research Partners (RDRP). If you are interested in taking part in an interview please register your interest with us or with the NNPDF, and we will send you further information.
In February, we look forward to attending the annual WORLD Symposium, this year being held in Orlando, Florida, and to presenting posters that document the NPC and ASMD patient experience. This event also offers the opportunity to network with expert clinicians and scientists working in the NPD field, and to meet representatives of the pharmaceutical industry who are developing, or considering the development of therapies for our diseases. At the end of the month, we will join the INPDA and the global rare disease community in celebrating Rare Disease Day. We will be taking the opportunity to bring further attention to the needs of those affected by Niemann-Pick diseases, and in particular to focus on this year's theme; “effective coordination of care".
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National Niemann-Pick
Disease Foundation
Over the past several months, every member of the team at NNPDF has been working in many ways to make a positive difference for patients and families affected by Niemann-Pick disease. We have partnered with industry leaders and other advocacy groups to build new levels of awareness of many important issues, including the burden on ASMD and NPC on caregivers and the role and understanding of health insurance. We hosted and participated in listening sessions with the FDA and worked to inform and update members of Congress about a wide range of issues related to Niemann-Pick. Perhaps the most historic moment for our community this year was the approval of a first treatment for ASMD – an accomplishment that would not have been possible without the patients, families and other advocates who participated in research and who used their voices to raise awareness of the critical need for access to treatment. We are so proud of all that we have achieved this year and we thank every member of the community for their support and participation.
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Heading into 2023, NNPDF will work to expand our efforts and build on the momentum in 2022 in new ways. We will continue to support and participate in research initiatives and other programs that can help leaders in government, industry and advocacy better understand the impact of Niemann-Pick disease. We will continue to work with regulators to encourage them to consider the essential new approaches in clinical research that can lead to more new treatments in the years ahead. We also remain committed to fighting for access to treatment for the entire community and will not stop until ALL people affected by ALL types of Niemann-Pick disease have access to life-changing therapies. As the Niemann-Pick landscape changes and treatments do become available, we will also expand support to help families manage issues related to insurance, working with their providers, and life planning. |
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On February 28th, patients, families, friends, clinicians, researchers, industry leaders and policy makers will join together to raise awareness of the issues impacting more than 300 million people around the world who are affected by rare diseases. At NNPDF, we will be launching a range of initiatives to help raise awareness of the impact of Niemann-Pick disease on social media, through blog posts and LinkedIn articles, and by continuing our efforts to highlight the critical need for research that can lead to new treatments.
As we plan make the most of Rare Disease Day, we also emphasize that NNPDF is dedicated to raising awareness every day to make sure our community has the support it needs. We continue to expand our support services to bring more resources to both patients and caregivers each year. We are in contact with regulators and industry leaders to ensure we bring them new insights on ways to support our community. We will also support new research that can highlight all of the important issues that affect patients and caregivers. And as always, we continue to fight for research that can lead to new treatments and will not stop until ALL people impacted by ALL types of Niemann-Pick disease have access to the therapies they need.
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Acid Sphingomyelinase Deficiency (ASMD) Patient Experience with Olipudase Alfa Survey
The International Niemann-Pick Disease Registry (INPDR) is conducting this survey in collaboration with the International Niemann-Pick Disease Alliance (INPDA), National Niemann-Pick Disease Foundation, Inc. (NNPDF), and Niemann-Pick UK (NPUK), who are dedicated to supporting and empowering individuals and families affected by Niemann-Pick disease, through education, collaboration and research.
This survey is part of a larger study that includes interviews with Niemann-Pick disease type A/B and type B (ASMD) patients which will explore the questions in this survey in more depth. Interviews will be conducted by Rare Disease Research Partners (RDRP). If you are interested in taking part in an interview, please register your interest within the "Participation in interviews" section of the survey and you will receive further information.
If you are aged 18 years and over, fluent in English (including non-native English speakers), are able to give informed consent, have a confirmed diagnosis of ASMD, and have received olipudase alfa as either an experimental or approved therapy for ASMD, please proceed and click the link below to access the survey.
The survey will take about an hour to complete. An informed consent is provided at the beginning of the survey prior to answering any survey questions. This informed consent will provide you more information about the survey such as the purpose, your involvement, benefits, risks and discomforts, confidentiality, and what will happen to the results of the survey.
If you or someone you know are interested in participating,
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Pfrieger's Digest
For summaries of research advances based on selected peer-reviewed publication in scientific journals, follow Pfrieger's Digest.
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Coming Soon...
INPDA Membership Directory
It is our hope that this membership directory will help us all keep better connected, as we continue our united pursuit of a cure for all types of Niemann-Pick Disease. Details coming soon.
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February 21-25, 2023 WORLD Symposium, Orlando, FL, USA
February 28, 2023 Rare Disease Day
April 23, 2023 INPDA Council Meeting
April 29-30, 2023 Niemann-Pick Selbsthilfegruppe (NPS) Family Conference
May 19-21, 2023 Vaincre Les Maladies Lysosomales (VML) Family Conference
May 25-27 2023 EURORDIS Membership Meeting Stockholm, Sweden
June 1-3 2023 Australian NPC Disease Foundation Family Conference
June 4, 2023 INPDA Council Meeting
June 10-13 2023 APMRF Scientific Conference for NPC Research
June 17, 2023 Niemann-Pick de Fuenlabrada (ANPF) Family Conference
July 20-22, 2023 NNPDF Family Support & Medical Conference, Orlando, FL, USA
August 29 - September 1, 2023 SSIEM Annual Symposium, Jerusalem, Israel
September 10, 2023 INPDA Council Meeting
September 19-20, 2023 Global Genes Rare Patient Advocacy Summit
October 1-31, 2023 Niemann-Pick Awareness Month
October 16-17, 2023 NORD Summit, Washington DC, USA
November 5-6, 2023 INPDA Face to Face Meeting, Spain
November 24-26, 2023 NPUK Family Conference & Interactive Workshop
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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 Update:
Azafaros B.V. is happy to announce that it has received Investigational New Drug (IND) clearance from the United States Food and Drug Administration (FDA) earlier this month, to conduct a clinical Phase 2 trial for its lead asset, AZ-3102, which is being investigated for the treatment of neurological symptoms of Niemann-Pick disease type C... READ MORE
Cyclo Therapeutics Update:
Global Phase 3 study TransportNPC™ has 35% of expected enrollment completed and is on track to complete enrollment by the end of 2023. Read letter from Cyclo Therapeutics CEO Scott Fine; I’d like to reflect upon the meaningful progress we have made on behalf of those living with NPC, and to express our gratitude for your engagement along this... READ MORE
KemPharm Update:
KemPharm Demonstrates its Continuing Commitment to the Niemann-Pick Community with Recent Leadership Changes. As part of executing on our long-term strategy of transforming into a leading rare disease company, KemPharm has recently announced changes to our executive leadership team in support of that mission. We currently have multiple... READ MORE
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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 2023 edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by June 1, 2023.
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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