Message from the INPDA President
Wow isn’t it amazing how time flies, summer is here already. The spring has been a very busy time for the INPDA and the global Niemann-Pick Disease Community.
INPDA executive members were able to attend the WORLDSymposium and the Michael, Marcia, and Christa Parseghian Scientific Conference for Niemann-Pick Type C research. It was exciting to see so much ongoing research with the potential to impact outcomes for both NPC and ASMD. Both events also offered opportunities to build connections with clinicians, researchers and industry that will continue to support the community moving forward.
Progress continues for treatments in NPC already in the development pipeline, with several active clinical trials and others determining next steps. Several new companies have entered the NPC space including Bloomsbury Genetic Therapies and Kisbee Therapeutics. You will find further information about these new companies plus the latest updates on other activities include in this newsletter.
For ASMD, submissions to regulators and funders for the enzyme replacement therapy Olipudase Alfa/Xenpozyme continue around the globe. I look forward to the day that I can say that there is universal access to this necessary treatment, but we are not there yet. Additionally, there is ongoing research geared to finding treatment options capable of crossing the blood brain barrier to address the neurological disease.
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INPDA members have been continuing to raise awareness, engage in fundraising activities, and hold family conferences, with many more activities planned in the coming months. You can read about their plans and activities in the "Member Updates” section of our newsletter. If you would like your activities and updates to feature in our next edition, please do get in touch!
Most exciting, the 8th Biennial INPDA face to face meeting is rapidly approaching! This long-awaited event will take place in Tarragona, Spain, November 10-13, 2023, starting with the INPDR Annual Forum on Friday November 10th. On Saturday November 11th, we are excited to join our hosts, the Fundación Niemann-Pick de España and to meet their community, at their annual congress. The team is deep in planning for this meeting. It will be a dynamic and interactive meeting allowing the members of the INPDA to continue to build on the strengths of our global relationships, to learn from each other, to hear updates on research and clinical trials and to build on our progress toward the shared goal of improving outcomes for all of those affected by Niemann Pick diseases. I look forward to the opportunity to have the community together in person. I am certain it will be a very productive weekend.
As always, I thank you for all you do on behalf of the Niemann-Pick Disease Community. Together we are stronger, and we can change the world.
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Niemann-Pick Brazil Association
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ANPB was formed in December 2010 and is dedicated to supporting patients and families of Niemann Pick type C, ASMD and Batten disease. ANPB, through regional representatives, is organized to provide guidance and assistance services to patients and families. Currently ANPB supports 100 NP-C, 30 ASMD and 50 Batten patients in all regions of Brazil.
Our Vision: To be a national reference institution of support for Niemann-Pick (type A, B and C) and Batten disease in all stages of accessible treatments and integrating families, professionals, laboratories, government and community... READ MORE
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Niemann-Pick Selbsthilfegruppe
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Family conference in Kassel/Germany: After a long time we could finally meet again in presence and welcome our members, physicians, researchers from 28 - 30.04.2023 in Pentahotel - Kassel. In addition to the member meeting, there were the newest presentations and updates regarding research and studies by Dr. Frank Pfrieger (Strassbourg), Prof. Valentina Pallottini (Rome) and Dr. Eugen Mengel (SphinCS/Hochheim). Jackie Imrie represented the International Niemann-Pick Disease Registry and its innovations.
Wim-Porto Carrero (BOKS support group - Belgium) presented the film premiere of the German translated ASMD Awareness video together with our Vice President Sara Ströer.
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Niemann-Pick Foundation
of Spain
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Hello everyone! These first months of the year have been frenetic for the Niemann-Pick Foundation of Spain. As we already told you in the previous Newsletter, the month of February for us is a very special month in terms of awareness: we commemorate the national day of Niemann-Pick (February 17th) and, in addition, we commemorate the Rare Diseases World Day (February 28th). For this reason, during the month of February, some acts and events were held to make Niemann-Pick disease known to society. We highlight that it was possible to celebrate the Charity Bingo of La Unión, in Murcia, which was attended by hundreds of... READ MORE
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National Niemann-Pick
Disease Foundation
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NNPDF has been busy planning and looking forward to our 31st Annual NNPDF Family Support & Medical Conference to be held in Orlando, Florida from July 20 - 22nd! This is a special time for our Niemann-Pick families to meet in person and connect with friends who truly understand the struggles related to Niemann-Pick disease. Our family conference offers our Niemann-Pick community many exciting opportunities to get involved in research, join family break-out sessions, or connect with expert clinicians, researchers, and other Niemann-Pick families.
Top researchers attend to interact with families, share their expertise, and provide updates about clinical trials and research occurring in the field. The family conference offers separate sessions for ASMD and NPC.
NNPDF is happy to welcome our international delegates! If you cannot join us in person but would still like to participate, a virtual attendance option is available which allows individuals to watch the general NNPDF Family Support & Medical Conference sessions live from their own home. Please select the “Virtual Attendance” option on your registration. Visit nnpdfconf.org for our family conference information and registration.
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Niemann-Pick UK
On behalf of Niemann-Pick UK, we have some exciting updates to share with you about recent activities and upcoming events in our community.
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Firstly, as mentioned previously, we have released all four short films from our ‘Invisible Interviews’ project. This series serves as a companion piece to our previous film, ‘Invisible Manners’, and delves deeper into the patient and family experience of living with Niemann-Pick diseases. We would like to express our gratitude to the members of the Niemann-Pick community who participated in these interviews, providing candid and heartfelt insights into how the diseases affect their daily lives. You can watch all four short films on our YouTube channel by clicking here.
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We would like to highlight the impact of BBC Children in Need on our small charity and other small, rare disease charities. In a short produced by Mediaborne, we aim to shed light on the importance of BBC Children in Need and the significant funding we receive from them. This funding has a tremendous impact, allowing us to further our mission and support individuals and families affected by Niemann-Pick diseases. As mentioned by our Families Officer, Louise Metcalfe, BBC Children in Need goes beyond just an appeal night on TV once a year. We are incredibly grateful for their ongoing support. |
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Looking ahead, we are looking forward to our events in our community. The 17th Annual Niemann-Pick Charity Golf Day is just around the corner. This event, originally created by Craig Mathieson in memory of his beloved niece Lucy Mathieson, has been a longlisting source of support for Niemann-Pick UK. Over the years, this event has raised over £100,000, and we are grateful to everyone involved, including the NPUK team, volunteers, sponsors, and all the attendees who make this day a resounding success. We can’t wait to see the impact of this year’s Golf Day which is happening on Wednesday, July 12th.
As always, we are committed to advancing clinical care, research, and therapies for Niemann-Pick diseases. We appreciate the continued support of our community and look forward to the exciting events and initiatives ahead. Stay tuned for more updates, and thank you for being a part of the NPUK family.
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International Niemann-Pick Disease Registry
In May members of the International Niemann-Pick Disease Registry (INPDR) team, including CEO Conan Donnelly, came together to develop some dynamic new video content to help push the brand forward and better understanding surrounding our current work and hopes for the future.
The team recorded at Pride Media Centre, a studio just outside of the city centre which has been used by many other high profile projects. Dan Gregson from production company Mediaborne was on hand with INPDR Communications Consultant John Lee Taggart to help guide the day, and ensure we were able to capture the ambitious amount of content we had planned, which includes; staff introductions and backgrounds, explanations of the positive benefits of the INPDR, information regarding the INPDR Gateway, conference/community presentations and much much more!
We’ve already been able to review some of the footage and it looks fantastic! We are excited to share more with our community very soon – watch this space.
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We are also pleased to share the following update entitled 'International Niemann-Pick Disease Registry and Mandos Health announce new research collaboration using real-world data to evaluate the treatment effects of VTS-270 to manage Niemann-Pick type C1'. INPDR’s Chief Executive Officer, Conan Donnelly states “The INPDR is delighted to announce that registry data is working hard on behalf of the community to support clinical research. This collaboration with Mandos Health demonstrates that INPDR is serving the Niemann-Pick community in the way it was intended. It also supports our efforts to deepen understanding of Niemann-Pick diseases.”
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Pfrieger's Digest
Written by Frank Pfrieger of Niemann-Pick Selbsthiifegruppe (Germany), "Pfrieger's Digest" provides an overview of the latest advances in Niemann-Pick disease based on recent scientific publications. His research focuses on cholesterol metabolism in the brain and the mechanisms of neurodegeneration in Niemann-Pick type C disease. Read Pfrieger's Digest Issue 8.
Follow Pfrieger's Digest for all summaries of research advances based on selected peer-reviewed publications in scientific journals related to Niemann-Pick types A-C.
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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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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 10-13, 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 has announced that the first patient has been enrolled into its Phase 2 RAINBOW study (NCT05758922). The clinical trial is being conducted in Brazil and the US and will evaluate the safety, tolerability, pharmacokinetics, and pharmacodynamics across two doses of its lead asset, AZ-3102, in patients with GM2 gangliosidosis and NP-C... READ MORE
Cyclo Therapeutics Update:
Dr. Caroline Hastings, Global Principal Investigator and Head of the Global Steering Committee for the Phase 3 study TransportNPC™ shares an update on their progress to date to advance this pivotal study in patients with Niemann-Pick Type C1... READ MORE
IntraBio Update:
IntraBio’s pivotal IB1001-301 trial, “Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover study” remains active. Data readout from the Parent Study is anticipated in the summer of 2023. The open-label extension phase for all participants is ongoing... READ MORE
Kisbee Therapeutics Message:
On behalf of the entire team at Kisbee Therapeutics, we greatly appreciate the opportunity to introduce ourselves to the INPDA community. Kisbee Therapeutics was founded in 2019 and is based in Cambridge, Massachusetts. With just under 40 employees currently, our team is passionate about the work we are doing and the potential to offer... READ MORE
Zevra Therapeutics Update:
Zevra Therapeutics, previously KemPharm, has renewed our commitment to the rare disease community as we pursue our primary mission to deliver life-changing treatments to people with rare conditions, and their families and caregivers. We are excited about the upcoming opportunity this summer to sponsor and attend both the National Niemann-Pick... 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 October 2023 edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by October 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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