February 2024

Message from the INPDA President

February 29 is Rare Disease Day. Niemann-Pick Disease Type C and ASMD/Niemann Pick disease are both inherited rare diseases. But being rare does not mean being alone (even Zebras travel in herds). The INPDA was established in 2009 with the goal of building a global Niemann-Pick Disease community and to change the road ahead for those living with these diseases.

The INPDA continues to grow, adding new members, and building upon our strengths.

The ended 2023 with a highly successful Face-to-Face Meeting in Tarragona, Spain. The meeting was graciously hosted by Fundación Niemann-Pick de Espan᷉a (FNP). I wish to thank the entire team at FNP for all their hard work in making this meeting such a great success, and to all of the FNP families for making us all feel so welcome in Tarragona. 

The meeting was dynamic and productive with representatives from around the world, clinicians, researchers, and pharmaceutical industry representatives all engaged in working together to share information and develop the priorities for the INPDA for 2023-2025.

The meeting included a review of how far we have travelled since the inception of the INPDA with presentations from Jim Green, Dr. Marie Vanier, and Dr Edward H. Schuchman. We know there is still so far to go, but it is also important to occasionally stop and reflect on how far we have come.

The remainder of the weekend was focused on updates re current research, clinical practice, and updates on clinical trials. I want to thank our speakers for their time and energy. Your contributions were invaluable. It was a packed 3 days, but its value cannot be understated. We left Spain with a clear vision of where the INPDA would like to go over the next two years, the priorities for 2023-2025, and started to develop a work plan to tackle this list of priorities.

We have started 2024 with a lot of activity including working on some of the items identified during our Face-to-Face meeting.

• The INPDA council has been active in reviewing the contents of the information portal and identifying documents that need to be updated or added to the portal.
• The INPDA has initiated work on an update of the Think Again-Think NPC Campaign.
• We are actively striving to provide more translations for materials.
• Several members of the INPDA including representatives from NPUK, NNPDF, Wylder Nation, INPDA and BOKS attended the WORLDSymposium meeting in San Diego which provided an excellent opportunity to hear new research, and to connect with clinicians and researchers from around the world.
• We have also started to work on planning for the next INPDA Face-to-Face meeting which will be co-hosted by Niemann Pick Argentina and Associac̡a᷉o Niemann-Pick & Batten Brasil (ANPB). Please keep an eye out for future updates including a save the date request for 2025.

People with NPC and their families live a life of great uncertainty and anguish, as, unfortunately, science has not yet discovered a cure and treatments are in the study and testing phase. With the intention of assisting in Niemann Pick type C Gene Therapy research, the Niemann Pick and Batten Brasil Association together with Speranzanpc held a Charity auction, which was a success. We raised significant funds to boost the research we dreamed of. The amount of R$191,000.00 Reais will be donated to UCL University (University College London), where all proceeds will be... READ MORE

NEWS FROM FRANCE | vml-asso.org

Overcoming Lysosomal Diseases

A very happy and successful 2024 to all INPDA members.

VML Funded Research Programs: By the end of 2020, the VML association will have financed and supported nearly 350 national and international research projects since 1992 for an amount of nearly 7 million Euros. Vaincre les Maladies Lysosomales (VML) has launched its 2023 call for projects for “lysosomal diseases”. The objective is to support research in the following areas:

1. Gene and Cellular Therapies for lysosomal diseases. All innovative biotherapeutic approaches acting indirectly on genes may be considered.
2. Other therapeutic approaches for lysosomal diseases.
3. Understanding the pathophysiological mechanisms of lysosomal... LEARN MORE

NEWS FROM NETHERLANDS | stofwisselingsziekten.nl

Adults Children and Metabolic Diseases VKS

On April 19th we are organizing a NPC day in the Netherlands in the AMC Hospital.

NEWS FROM POLAND stowarzyszenie-niemannapicka.org.pl

Association Niemann-Pick

For Rare Diseases Day, we plan to take part in a two-day event organized by the National Forum for the Therapy of Rare Diseases, Orphan. Additionally, our Association is a patron of the 2nd Student Day of Rare Diseases conference at the University of Łódź. We will participate in the event to represent the voice of Niemann-Pick patients.

The NPC situation in Poland is not good. Poland is the only country in the European Union that does not reimburse Miglustat.



In recent months, after the parliamentary elections, the situation and the new government's attitude towards people with disabilities have changed... READ MORE

NEWS FROM SPAIN | asmd.es

ASMD España

The IV Solidarity Music Marathon for ASMD Spain was held in Segovia on 18 and 19 November. More than 600 attendees in two days of solidarity concerts of the most famous folklore music groups of the region.

Informative talks about the disease took place during Saturday evening with the participation of Isabel Hontanilla, former Treasurer of INPDA, Maricruz R., mother of 2 ASMD pediatric patients, and Daniel de Vicente, president of ASMD Spain.

Throughout both days we were able to taste some of the traditional dishes of the area and... READ MORE

Hello Niemann-Pick community! We want to start this newsletter wishing you all a Happy New Year 2024, full of peace, love and happiness. We hope that the challenges and objectives of this new year can become a reality.

As you all know, in November we celebrated in Spain, together with our XXIII International Scientific-Family Congress, the 9th Face2Face Meeting of the INPDA. It was an honor for our organization to be able to host this meeting. For all of us it was a very intense weekend, with a lot of work, but at the same... READ MORE

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.

Over the past few months since our last update, we have helped families on a daily basis with information and resources needed to manage the daily challenges of Niemann-Pick disease, assisted our ASMD families in the U.S. to obtain access to Xenpozyme, and we are supporting our NPC community to share its representative voice... READ MORE

NEWS FROM THE UNITED KINGDOM | npuk.org

Niemann-Pick UK

Reflecting on 2023, it's been a year of significant achievements and shared challenges within our Niemann-Pick UK community. As we welcome the new year, it's important to acknowledge the milestones we've reached together.

Throughout 2023, we were privileged to witness heartwarming stories shared through initiatives like the "Invisible Interviews" series, which shed light on the experiences of families like the Carters and highlighted the importance of Rare Disease Day. Our presence at events such as the Smiley Charity Film Awards and the PM Society Digital Awards underscored our commitment to... READ MORE

parseghianfund.nd.edu

Ara Parseghian Medical Research Fund at Notre Dame

In 2023, thanks to our many supporters and collaborators, we achieved significant milestones in our pursuit of understanding, treating, and ultimately conquering NPC and we are looking forward to an exceptional 2024. Please see below for a few reminders of upcoming opportunities:

We are pleased to announce grant requests are now being accepted for the 2024 grant cycle. The mission of the Ara Parseghian Medical Research Fund (APMRF) is to promote research that furthers understanding of the molecular basis of Niemann-Pick Type C disease and targets development of novel strategies to treat and/or cure the disease. For the 2024 Request for Proposals (RFP), research grants will provide support... READ MORE

inpdr.org

International Niemann-Pick Disease Registry

The International Niemann-Pick Disease Registry (INPDR) has experienced a productive year, marked by notable accomplishments. Progress includes substantial growth in the Clinician-Reported Database (CRD), the successful implementation of the Patient-Reported Database (PRD), and support for advanced research initiatives.

The INPDR's Clinician-Reported Database now holds 440 actively participating patients, indicating a significant 10% increase in the last quarter and a doubling in size over the past three years. New clinical sites, including those in Serbia, Netherlands, and Germany, have been successfully inducted into the... READ MORE

INPDA Membership Directory

Our INPDA Membership Directory is complete! It is our hope that this directory will help us all keep better connected, as we continue our united pursuit of a cure for all types of Niemann-Pick Disease. Download your copy or visit our website.

February 28, 2024 Rare Disease Day

April 19, 2024 VKS NPC Day, AMC Hospital, Netherlands

May 15 & 16, 2024 European Conference on Rare Diseases and Orphan Products (ECRD), Brussels, Belgium

June 8-11, 2024 Michael, Marcia, & Christa Parseghian Scientific Conference for Niemann-Pick Type C Research, Tucson, Arizona, USA

July 11-13, 2024 NNPDF Family Support & Medical Conference, Salt Lake City, Utah, USA

September 3-6, 2024 Society for the Study of Inborn Errors of Metabolism (SSIEM) Annual Symposium, Porto Portugal

October 18-21, 2024 Reuss Valley Meeting, Rotkreuz, Switzerland 

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:

The Azafaros team was excited to meet with members of the INPDA (International Niemann-Pick Disease Alliance) at the bi-annual INPDA conference in Tarragona in November last year. We especially enjoyed meeting the representatives of known... READ MORE

Cyclo Therapeutics Update:

Hello from Cyclo Therapeutics. We hope you feel recognized and supported this Rare Disease Day on February 29. It is not lost on any of us that your experience with NPC extends well beyond one day, and that every day, NPC is a very.. READ MORE

IntraBio Update:

IntraBio Inc was pleased to share numerous milestone events in 2024. In January, IntraBio filed a New Drug Application (NDA) with N-acetyl-L-leucine (NALL) for the treatment of Niemann-Pick disease Type C (NPC) with the US Food and Drug... READ MORE

Mandos Health Update:

Mandos Health is excited to participate in Rare Disease Day 2024! We will be sharing our colors and participating in patient speaker series and patient stories to help raise awareness and educate our teams... READ MORE

Zevra Therapeutics Update:

We are excited to share another milestone in our collective efforts to bring a possible new treatment option to the NPC community. Zevra Therapeutics, Inc., announced in January (link to press release) the U.S. Food and Drug Administration’s (FDA)... READ MORE

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: Sarah Jannetta (France)

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 2024 edition, please forward your update to [email protected] by June 1, 2024.

For a complete list of all INPDA members please click here.