October 2023

Message from the INPDA President

Today is Global Niemann Pick-Disease Awareness Day. Raising awareness of Niemann-Pick Disease is an activity that has been at the core for the INPDA and all its members since the beginning. We have made huge strides in this area with the use of social media tools, the INPDA website, the Think Again Think NPC campaign and of course this newsletter.

This year’s campaign is focusing on the impact of the Niemann-Pick Disease on siblings. Niemann-Pick Disease does not just impact the individual with the diagnosis but the entire family. There is often a lot of discussion about the impact on parents and caregivers, but the changes brought by a diagnosis of Niemann Pick-Disease also has significant impact upon the siblings of those with Niemann Pick Disease. You will find that this is the focus of this years INPDA awareness campaign. INPDA social media posts and posts shared on INPDA.org include input provided directly by siblings impacted by Niemann-Pick Disease. I encourage you to follow the INPDA on social media and share your community’s experiences as the month continues.

Despite the significant efforts we have made since the formation of the INPDA there is still much to do in terms of raising awareness for Niemann-Pick Disease. The road to diagnosis remains challenging and frustrating for many and leads to delays in treatment with impacts on quality of life. Our understanding of the Niemann-Pick Diseases is continuing to grow with an increasing awareness that the age of onset of symptoms and the type of initial symptoms can cover a wide spectrum but we need to work to ensure that this is broadly understood to facilitate early diagnosis and treatment. There is also the need to continue to raise awareness with regulators and funders regarding the urgent unmet needs in Niemann-Pick Diseases and the challenges of research and clinical trials, and the need for access to treatment in such rare disease.

Many of our members have awareness events scheduled throughout the month. Please take a moment to review the details of their activities in the updates they are sharing in this newsletter.

As we look ahead, the INPDA team is focused on the INPDA Face to Face meeting which will be taking place in Tarragona Spain November 10-12, 2023, graciously hosted by Fundación Niemann Pick de Espan᷉a. It will be our first real opportunity to reconnect in person since we met in Lyon in 2019 due to the COVID 19 pandemic. I am looking forward to a dynamic weekend with opportunities to build our community, review our progress to date, meet with clinicians, researchers and pharmaceutical companies working in the Niemann-Pick disease space and set our priorities for the next two years of work. 

As always, I want to thank all of you who continue to work on behalf of all of those with Niemann-Pick Diseases. Your efforts are key to our ability to change the path forward for the Niemann-Pick Disease Community.

ANPB participated in the month of September in the launch of the Mixed Parliamentary Front on Rare Diseases and the XIV National Forum on Health Policies in Brazil – Rare Diseases, which aims to act within the Brazilian government by stimulating incentives to bring greater benefits to Brazilian patients with rare diseases and their families. Some of the topics discussed at the launch of the parliamentary front were the reduction of taxation for the development of scientific research into medicines and the incorporation of medicines into the Unified Health System (SUS). With this in mind, ANPB has done tireless work to try to secure the supply of the drug Miglustat for everyone diagnosed with Niemann-Pick Disease type C... READ MORE

NEWS FROM FRANCE | vml-asso.org

Overcoming Lysosomal Diseases

"Rare but not Alone "

We had our annual VML march for the awareness of the Lysosomal disease. It is organized all over France on the first Sunday of October. The principle is to get together the same day at the same time to share a common activity for the fight against rare diseases.

Be Generous with VML: a catalog of French delicacies

To raise awareness of the reality of Lysosomal diseases and collect donations to finance research projects and family support missions, VML is launching its 28th Lysosolidarity campaign.

Running for Niemann-Pick Disease: A great team ran the Weinbergslauf in Hochheim on Sunday, September 10th. With their brightly colored running shirts they drew attention to our rare disease.

Hello everyone!

We are happy to greet you again after the summer months. The Niemann-Pick Foundation in Spain wants to share with all the Niemann-Pick community some news about our clinical trial with Efavirenz, and wants to share some activities that we did in these past months and activities that we will do in the few weeks.

As all of you know, in Spain we are doing a clinical trial with Efavirenz. Last June, the trial had finished his first year for all the first nine patients. The rest of the patients will finish soon. We are so excited to announce that the second year had started also in June, so our hopes are intact. In our Annual Congress, Dr. Gascón will explain us this first year of the trial. We want to use these lines to send a big thankful message to all the people who is helping us with the fundraising in the events or with the charity activities. Thank you so much to all of you... READ MORE

As we head into winter, we reflect on the progress we have made in the US for the Niemann-Pick community. Our family services team assisted over 60 families with resources needed to begin treatment for ASMD. We continue to work hand-in-hand with pharmaceutical companies in our efforts to bring FDA-approved medicines to treat NPC a reality as quickly as possible. We provided essential services to families beginning their Niemann-Pick journey as well as to those living with day-to-day challenges of this disease. We brought our Super Siblings together to forge stronger connections with one another and helped them to share their voices on how Niemann-Pick disease impacts them within the family. Of course, a highlight of this year was gathering over 230 members of the Niemann-Pick community together for our NNPDF Family Support & Medical Conference in Orlando. The bonds created through this educational and supportive weekend are irreplaceable.

Throughout October we honor Niemann-Pick Awareness Month with daily educational, social, and informational opportunities to connect with one another and to raise awareness of Niemann-Pick disease and of the loved ones who motivate us to work harder to find a cure. More information can always be found on our website nnpdf.org.

NEWS FROM THE UNITED KINGDOM | npuk.org

Niemann-Pick UK

Greetings from Niemann-Pick UK,



In this edition of INPDA Newsletter, we're thrilled to bring you exciting updates and upcoming events within our vibrant community.

First and foremost, we're celebrating the incredible achievement of our NPUK runners at this year's Great North Run. Together, they rallied and raised over £10,000—a monumental feat that deserves an enthusiastic round of applause. Each runner poured their time, energy, and unwavering determination into this fantastic cause, and their dedication has paid off in ways beyond measure. We couldn't be prouder of their contributions to our ongoing battle against Niemann-Pick diseases and our pursuit of research toward a cure.

Another significant event on our horizon is the NPUK Annual Family Conference & Interactive Workshop, scheduled from November 24th to 26th. Once again, we've chosen the heartwarming Wybston Lakes in Bedfordshire as our venue—a place that holds a special place in our hearts. As is tradition, our Annual Family Conference and Interactive Workshop provide a unique platform for patients, families, and dedicated professionals to come together...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.

October 1-31, 2023 Niemann-Pick Awareness Month

October 19, 2023 International Niemann-Pick Awareness Day

November 10-12, 2023 INPDA Face to Face Meeting, Spain

November 11-12, 2023 FNP Annual Congress, Spain

November 24-26, 2023 NPUK Family Conference & Interactive Workshop

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.

Cyclo Therapeutics Update:

We continue to make progress in enrolling our Phase 3 study known as TransportNPC™, the most advanced clinical program underway for NPC globally. With study sites in 13 countries, we expect to complete enrollment this year... READ MORE

IntraBio Update:

IntraBio’s announced the results of its 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”. The study was highly successful, meeting both its primary and secondary endpoints... READ MORE

Mandos Health Update:

Mandos Health, LLC is committed to the NPC Community by:

• Advancing our VTS-270 development program for everyone affected by Niemann-Pick Type C1 (NPC1). We are leaving ‘no stone unturned” and generating, reviewing the totality of the clinical and supporting data to evaluate the effects of VTS-270... READ MORE

Zevra Therapeutics Update:

Zevra recognizes the importance of the International Niemann-Pick Disease Alliance (INPDA) and other patient organizations dedicated in not only raising awareness of Niemann-Pick Disease but also in providing advice, information, and education to those living with NPC and their families. Global Niemann-Pick Awareness Day provides an... 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:  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 February 2024 edition, please forward your update to [email protected] by February 1, 2024.

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