October 2022
Message from the INPDA President

October is Niemann-Pick Disease awareness month and October 19th is Global Niemann-Pick Disease Awareness Day. As a small, rare disease community we have made a big impact over the years, but our work is far from done. In a time where the world is coming out of a global pandemic, financial uncertainty, and political uncertainty it is more important than ever for us to ensure the voice of our community is not lost in the noise. We need to continue to raise awareness amongst health care providers to shorten the diagnostic odyssey encountered by patients and families, awareness with regulatory authorities to ensure they understand both the disease and the critical unmet needs of our community, funders to ensure that there is access to treatments once they are approved and to continue to propel research in NPC and ASMD forward. I want to thank all of you for your ongoing efforts to raise awareness within your communities - it does make a difference!
This has been a busy time for the Niemann-Pick disease community. The INPDA face to face meeting took place in Orlando, Florida from July 29 - August 1, 2022, hosted by the NNPDF. This provided the opportunity for INPDA members to join clinical and scientific updates virtually and for the INPDA executive and committee members to meet face to face to build a work plan for the next year. It was a very productive meeting. I wish to thank the NNPDF for generously hosting this event and facilitating the participation of INPDA members along with the NNPDF community.

There has been the exciting news of the approval of Xenpozyme (olipudase alfa) for the treatment of ASMD Niemann-Pick Disease by the Japanese Ministry of Health, Labour and Welfare (Japan), the FDA (US), EMA (Europe) and ANVISA (Brazil). I want to thank all of those who have worked so diligently to get to this point and most of all to thank all the patients and families who participated in the clinical trials. There is still work to be done, other approvals to be sought, funding to be sorted out and the need to find treatment strategies to address the unmet need of treating the neurological components of ASMD.

NPC clinical trials are recruiting for Cyclo Therapeutics (IV Trappsol Cyclo) and IntraBio (details available at clinicaltrials.gov) and Mandos and KemPharm continue to work to develop their path forward.
You will find in this newsletter valuable information from our member organizations and pharmaceutical companies involved in Niemann-Pick Disease, along with a research update. Please feel free to share this newsletter with your community.

As always, thank you for all you do as we work to change the road ahead for those living with Niemann-Pick Disease.
INPDA President
NEWS FROM CANADA | niemannpickcanada.org
Niemann-Pick Canada

Niemann-Pick Canada is proud to have renewed our commitment to The Hospital for Sick Children in Toronto, Ontario which continues the important work that we started that was recently published in Nature Biotechnology in March 2022. In collaboration with the NIH, this new grant will work to help further understand how the various mutations in NPC disease contribute to the broad phenotypic presentation of NPC patients. We hope this information can contribute to helping better understand patient disease onset and severity and potentially predict or understand why patients may or may not respond to specific therapies. In addition, Niemann-Pick Canada continues to be proud to support the important work of Dr. M. Schultz and Dr. A. Lieberman at The University of Michigan and Dr. K. Vaughan at the University of Notre Dame.
NEWS FROM GERMANY | niemann-pick.de
Niemann-Pick Selbsthilfegruppe

A digital meeting for members started in June (quarterly). It’s a great possibility for members to chat and talk. Sometimes focus topics as self-care, grief and assistance with care products included and, in this case, special guests invited. We are excited about the future development of our regular exchanges.

Due to the approval of the enzyme replacement therapy for ASMD in Germany, we held an online meeting with our specialist Dr. Mengel (SPhinCS/Hochheim). Members got informed about further steps, the current trial results, and general topics about handling with ASMD.

BELOW: The runners of SphinCS, affected patients and friends ran together at the 18th Hochheimer Weinbergslauf for Niemann-Pick!
NEWS FROM ITALY | niemannpick.org
Associazione Italiana Niemann-Pick

October 19th is the Global Niemann-Pick Awareness Day, now at its fourth edition and established by the Associations that are part of the INPDA (International Niemann-Pick Disease Alliance). To celebrate this important day dedicated to raising awareness on the pathology, the Italian Niemann-Pick Association organizes and participates in many initiatives.

On the same day, the Association is invited to participate in the VARIETA'LK, a talk show that wisely combines information and comedy. It will take place at 9 pm at the Q77 Theater in Turin (Corso Brescia, 77). The formula is that of a classic talk show but with a social intent: each evening of the series is dedicated to a different theme: from social to education, from health to civil rights. Comedians, actors, and musicians will alternate on stage creating a new mix halfway between fun and civil commitment.

Representing the Association, the founder Luigi Bonavita and Dr. Diego Maria Papurello will provide information and insights on Niemann-Pick disease. The first will retrace the milestones achieved by the association's history from 2005 to today, also illustrating future projects; the second, as Director of the neurology department of the Cirié hospital (TO) and a member of the Medical Scientific Committee of the Association, will provide clinical information on the disease and what it entails for the person affected. The event is led by Gianpiero Perone, a talented comedian who was the protagonist of many editions of the cabaret program “Colorado” broadcast on ITALIA 1.
The VARIETA'LK initiative was presented within the contest set up on the occasion of the Gift Day: the initiatives organized by associations certified by the Italian Donation Institute were included in the category dedicated to non-profit organizations. The Gift Day was established at a national level with a specific article of the Law (no. 110 of 07/14/2015) with the aim of recalling the importance of the gift and donation in all its forms.

At the end of the month dedicated to pathology, a phigital ASMD conference will be held on November 3rd: “STATE OF THE ART AND NEWS OF AN ULTRA-RARE PATHOLOGY - Information meeting at the end of the month to raise awareness on Niemann-Pick disease” (can be followed both in person and online).

The goal is to make the point on the acid sphingomyelinase deficit and we will talk about framing of the pathology from a clinical point of view, at the same time bringing attention to the stories of those who live the disease every day. Finally, through the panel discussion at the end of the meeting, space will be given to the expression of needs that still remain unanswered today. The appointment is at 3 pm at the MoMec in Rome (via della Colonna Antonina, 52) or in remote connection closing at 5.30 pm.

So we just have to start… Stronger Together!!
ASMD Espana

We are very excited to announce that, on 21 and 22 October this year, we will hold one of the most important annual events of our association and on which we have been working for some time. It is our 2nd ASMD Spain Scientific - Family Congress, which will be held in Segovia.

The content of this year's program will be focused on the approval of the new and only treatment approved by the EMA and FDA, to date, for our disease. It will be aimed at patients, families, caregivers, as well as health professionals, scientists and social agents who dedicate their work to this pathology.

On the 21st, a dinner will be held for associate members and speakers, which will serve as an informal and relaxed meeting to get to know each other. The presentations will take place throughout Saturday 22nd, with an interesting clinical, scientific, and social content program.

You can join us by Zoom or YouTube. Registration is free of charge. For more information, please visit asmd.es, email to eventos@asmd.es, or call +34 644 677 927.
Niemann-Pick Foundation
of Spain
From Spain we wish that all of you have had a good summer, that you have enjoyed your vacation, and that you have been able to rest for a few days with your family and friends.

At the Niemann-Pick Foundation we have started the course with fully charged batteries. In our last newsletter we informed you that at the end of May we were going to celebrate our XXII International Scientific-Family Congress in Barcelona. It was a very special congress for all of us, since it was the first after two years of the pandemic in which we could meet in person. Seeing each other face to face again and being able to share moments together reminded us about the importance of advancing together on the path and continuing to pursue our goals. In the Congress we have the participation of researchers and doctors who are experts in Niemann-Pick disease, both in ASMD and in Niemann-Pick type C. It was a very motivating congress, from which we came out strengthened and in which we were able to share the latest news and the latest advances in the disease.

At the Barcelona Congress we broke the news that the first patients participating in the Efavirenz trial had started the trial! At the end of May, five patients began the first visit of the trial. It was very exciting for everyone to be able to start it after so many months of delay and having to postpone it due to COVID19. To date, all patients have started: they have between two and three visits, depending on the case, of the six planned over a year.
During the summer, we took the opportunity to hold a charity event for the Foundation:
the 2nd edition of the charity bingo was held in La Unión (Murcia). The event was attended by more than 300 people who spent the entire afternoon of Sunday, June 26, having a pleasant time. The event was attended by some patrons who wanted to publicly thank the event organizers for their support of our cause. The act was a success and the III edition is already being considered for 2023!
Also in July, the president of the Foundation attended the American conference and the INPDA meeting in Orlando on behalf of the Foundation. The medical and clinical updates were very satisfactory. Hopefully at the next meeting we can attend again and continue learning from the best.
NP Suisse
In October 2022 the Loire Valley Meeting will again take place from Friday 21st to Monday 24th at the Manoir de Clénord France. Since our first LVM in 2012 progress has been made towards a treatment for Niemann-Pick type C disease. However, a real breakthrough is unfortunately still missing. Our efforts have to go on.

The objective of LVM 2012 has been to identify the most critical NP-C research priorities through close discussions in an informal atmosphere. LVM 2014 intended to span a bridge between fundamental and clinical research. Our basic aim in 2016 was to trigger potential collaborations to foster the development of ongoing and future medical treatments. In 2018 we started to have a look at the options for gene therapies. This year, after the COVID interruption, 2022 we will celebrate the 10 years anniversary of the LVM.

As in previous years, together with SHG Germany we are inviting researchers and clinicians from all the world who are among the leaders in NP-C or related pathologies. The number of scientists is limited. However (and this is new) we intend to share videos of the presentations for interested scientists, NP-C associations, and NP-C families to view after the meeting. All presentations will be in English. No translations will be provided.

All interested parties should visit the NPSuisse website at www.npsuisse.ch at the end of October. Information on presentations will be given under “scientists’ corner”.

Christoph Poincilit
President of NPSuisse
Niemann-Pick UK

Recently, we have been very busy with planning and preparations for our Annual Family Conference and Interactive Workshop which took place from the 6th to the 9th of October. The Conference provided the opportunity to bring together patients and families, with those working to progress clinical care, research, and therapies for Niemann-Pick diseases.
This year’s Conference was particularly special, as it marked the return to our much loved “in-person” format, the first since 2019, which will allowed our community to get together over the course of one weekend to further support each other, learn from one another, and enjoy time together.

In July we had our 16th Annual Niemann-Pick Charity Golf Day. This event was created by Craig Mathieson, brother to NPUK’s CEO Toni Mathieson, who developed the day in memory of his much-loved niece Lucy Mathieson, who sadly lost her fight with Niemann-Pick disease in 2007. The long running event has been of massive support to Niemann-Pick UK raising over £100,000 across the last 16 years. This year’s event was no different and the day was a huge success, thanks to the NPUK team, volunteers, our fantastic sponsors… and of course everyone who attended!

Over the last few months, we have been amazed by NPUK’s fundraising superstars, who have taken part in or created many incredible fundraisers to support our small charity. In August Andrew Gaskin cycled from Byers Green, County Durham to Santiago de Compostela in Northern Spain, 1800 miles, raising an amazing £4455 in the process which was split between Marie Curie UK and NPUK. We are always so thankful to anyone who takes the time and effort to fundraise for NPUK, it means so much to us as a small charity.

We have also been working on our latest film project, Invisible Interviews, which is a companion piece to our previous short film Invisible Manners (2020). As you may know, Invisible Manners was a short animation which explored the experiences of living with an invisible illness and was developed from feedback we received from the Niemann-Pick diseases and wider rare disease community. Invisible Interviews looks more deeply at the patient/family experience and takes the form of video interviews with four members of the Niemann-Pick community, who each provide a varied and in-depth perspective on how Niemann-Pick diseases affect their day to day lives. Already we are so pleased with the progress the project has already made, and we are honored that our interviewees have provided such candid and heartfelt answers. We look forward to sharing the completed series with you all!
National Niemann-Pick
Disease Foundation

This summer brought over 200 participants together in Orlando, Florida for our annual Family Support & Medical Conference, with many other participants joining for virtual conference sessions. Families gathered for expert clinical and research updates as well as family services sessions designed for families in all stages of the Niemann-Pick journey. The experience was made even more special by taking place in conjunction with the International Niemann-Pick Disease Alliance biennial meeting, allowing US families to meaningfully connect with our international friends. The conference recordings can be viewed here.
The approval of Xenpozyme by the Food & Drug Administration (FDA) was an important milestone as our first, and only, approved treatment to date in the U.S. A billboard lit in New York City’s Time Square featuring Garrett Hopkin and April Clemenza raising awareness of ASMD marks this moment magnificently. We are hopeful that many approvals will follow in the near future.

The FDA and Duke Margolis Center for Health hosted a webinar in August to review key learnings from the public workshop on endpoint considerations to facilitate drug development for Niemann-Pick type C, setting the tone for future collaboration and progress needed to advance NPC drug development.
For Niemann-Pick Awareness Month, NNPDF is featuring #NiemannPickChampion across our social media platforms. We are also focused on community education and hosting a series of Community Connections featuring our Board members for drop-in virtual discussions. We have shared personal Niemann-Pick journeys at awareness events for our pharmaceutical partners, including Azafaros, Kisbee Therapeutics, and Sanofi which made the Niemann-Pick experience more personal and provided unique and candid insights into the diagnostic journey, life with Niemann-Pick disease, and unmet needs that still exist. We hope you’ll share your #NiemannPickChampion as well this month - we are rare, but together we are mighty!
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.
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.

Thank you for a wonderful meeting in Orlando. Although Azafaros is new in the field of NPC, we were happy to be invited to join the INPDA/NNPDF Family Support & Medical Conference in Orlando in July 2022. It was a pleasure meeting you all, having the chance... READ MORE

Cyclo Therapeutics:
Earlier this month, Cyclo Therapeutics announced it has initiated a Phase 2b study of its investigational therapy, Trappsol® Cyclo™ for the treatment of early Alzheimer’s disease (AD). This work expands the study of Trappsol Cyclo, which is currently... READ MORE

IntraBio Inc.:
IntraBio Inc. is pleased to announce the 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” is active and recruiting patients 4 years and older... READ MORE

KemPharm 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... READ MORE

Xenpozyme (olipudase alfa) has been approved for the treatment of non-central nervous system manifestations of ASMD in Japan, Europe, USA, and Brazil!
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 2023 edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by January 31, 2023.

For a complete list of all INPDA members please click here.
International Niemann-Pick Disease Alliance
Tel: +44 (0)191 4150693 | Email: info@inpda.org
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.