NEWS FROM ARGENTINA | npcargentina.wixsite.com/npargentina

From Argentina we can say that luckily none of our patients has been affected by Covid, we work with them via “Zoom” with psychological assistance and remote medical and kinesiological advice. For October, Niemann-Pick Disease Awareness month, we are going to celebrate the 15th anniversary of the founding of the Association, we are preparing a great campaign, with a new web domain and wide dissemination on social networks by our medical references already patients. In the next newsletter we will tell you the results.

NEWS FROM AUSTRALIA | npcd.org.au

We recently released our active ware to purchase to help spread awareness throughout our country, take a look at npcd.org.au.

NEWS FROM BRAZIL | niemannpickbrasil.org.br

In October, ANPB will be posting, in their social medias , videos of Niemann Pick Disease families, their partners and collaborators that will share their experiences with the disease and with the support received from the association:

NEWS FROM CANADA | niemann-pick.ca

Despite the pandemic, Niemann-Pick Canada is proud to support the recent and ongoing launch of the International Niemann-Pick Disease Registry (INPDR) in Canada. Niemann-Pick Canada will support recruitment efforts with increased awareness of the registry and in highlighting the importance of patients, families and clinician contribution. In addition, Niemann-Pick Canada has partnered with the medical data science company AllStripes (formally RDMD) and other leading Niemann-Pick Foundations including Firefly Fund, National Niemann-Pick Disease Foundation (NNPDF) and the Ara Parseghian Medical Research Fund at Notre Dame (APMRF) in recruitment for a sibling study research project focused on if early diagnosis and intervention result in better outcomes and quality of life for patients with NPC. The research is intended to support the advocacy effort to add NPC to state and federal newborn screening lists in the United States – an initiative taken on by Firefly Fund including coordination of NPC/NBS Experts, NPC Community and Industry Stakeholders.

Niemann-Pick Canada is also happy to have had the opportunity to recently attend several Niemann-Pick virtual conferences including: NPUK Annual Family Conference and Interactive Workshop (September 25-27, 2020), Michael, Marcia and Christa Parseghian Scientific Conference for NPC Research (various dates throughout May, 2020) and NNPDF Family Support and Medical Conference (July 10-12, 2020). We would like to extend our heartfelt gratitude to these organizations for facing the challenges of adjusting to the virtual medium due to COVID 19 as they continue to support the sharing of information with the community and allow families to connect. Well done NPUK, APMRF and NNPDF for doing a wonderful job!!

It is a tough year but we will all persevere together as we also face the challenges of this global pandemic towards our common goal - finding a cure for Niemann-Pick Diseases.

NEWS FROM FRANCE | vml-asso.org

We have planned a webconference for NPC and NPB families on November 7th, 2020. This will be an opportunity to share the latest on the NP diseases, clinical trials and the impact of Covid 19 for parents patients and carers.

We had our annual march in early October in support of VML and in memory of our patients.

NEWS FROM GERMANY | niemann-pick.de

There is a newly founded organization of lysosomal storage diseases (LysoNET) with one representative of the following parent groups: MPS, Gauchers, Fabry, Pompe, Niemann-Pick and Sandhoff/TaySachs. Focus is to find ways to support public and clinical awareness for issues that are mutual for all groups and that are furthermore beyond the impact of the individual diseases. There are a lot of common challenges and as a group it is important to discuss and to achieve progress together. Support groups are the fourth pillar in health care as a supplement to outpatient, inpatient and rehabilitative care) with the aim of supporting affected people. www.lysonet.de.

Hochheim Talks: German Center SPhinCS founded by Dr. Eugen Mengel (formerly lead clinician at Villa Metabolica Mainz) focusing on clinical science for Lysosomal Storage Diseases. Face to face meeting with regard to future home therapy possibilities in Germany (status quo, medical framework, future thinking, digital possibilities, telemedicine.

In October (NP Awareness Month) there will be an article about Lili and her outpatient hospice support in a big Cologne Newspaper.

NEWS FROM ITALY | niemannpick.org

On the 2nd Global Niemann-Pick Disease Awareness Day, October 19th, Associazione Italiana Niemann Pick intends to launch a series of initiatives aimed at raising awareness and making known the reality of this disease and the path of the families of these patients.

Starting from this date we will be engaged with a communication campaign through social networks and the publication of articles dedicated to our topic in some prestigious magazines, online and in print, such as Focus, dealing with science and the third sector: this will serve to highlight our "message" but also to give continuity, because this will not be limited to just the 19th. The month of October has been for some years the month dedicated to the awareness of this rare genetic disease, but we want to ensure that people's attention is addressed to these families also in the other months of the year.

The published articles will also be an opportunity to launch a specially edited video to tell about our activities, our projects, the commitment of all these years and the many goals we have achieved, such as the approval of the drug for the treatment of NPC, obtained as a result of a great job that led to the creation of a network of doctors who still choose to be by our side today.

But the real focus of the video will be families: through their testimony it will be possible to make it clear to those who are fasting of these issues, how difficult it is to face a diagnosis of a rare disease and manage the therapeutic-assistance path of these people, not to mention of the impact of such a situation on family and couple life.

We also decided to involve the sport’s world: Raphael Beaugillet, a professional cyclist who in the past has shown his closeness to our issues by participating in tandem in the Paragliding World Cup in Corridonia with the “Think again. Think NPC " campaign t-shirt. In fact, in the next track races he has chosen to wear our suit, helping us to spread knowledge about Niemann Pick's disease and keep attention on rare diseases.

The date of October 19th will therefore be “the spark” that will announce the beginning of a series of initiatives that will describe the hardships, the difficulties, but also the great battles that have led to great victories. Ours and of our families: because the association is always alongside the families, to support them. This is therefore an opportunity to draw the attention of the general public to what these people go through from the moment of diagnosis, then moving on to managing all the difficulties involved in having a child, a husband or a wife with this disease; a path that does not differ too much from that of any other rare disease or another seriously disabling disease that involves 24-hour assistance.

All this will be carried out on a national level and assisted by the INPDA at an international level, with the help of material common to all the associations that make it up, to give homogeneity to a celebration that will take place all over the world.

We invite you to see also the Italian version of this article on our website here.

NEWS FROM THE NETHERLANDS | stofwisselingsziekten.nl

Facebook: facebook.com/Stofwisselingsziekten

Instagram: instagram.com/stofwisselingsziekten.nl

NEWS FROM SPAIN | anpf.es

The Niemann-Pick association of Fuenlabrada, was registered in the registry of associations of the community of Madrid on June 2009 with the number 30469 and its headquarters are located in Fuenlabrada, Madrid, Spain.

The association, also known as ANPF, began as a small entity that intended to support patients in Madrid, but little by little it grew and today is made up of families and friends from all over the country. Currently around 300 families are associated, of which 20 are affected by this disease. Our primary objective is to promote and fund research into the disease. We promote a plan of aid and care to improve the quality of life of the loved ones and their families.

Every year we hold a Family-Scientific conference with all the families and the main researchers from our country and Europe. With this we intend to keep all interested parties informed of the new developments that are being developed around Niemann-Pick Type C, while we take the opportunity to enjoy a pleasant meeting between families.

In 2015, the ANPF decided to participate in the Gene Therapy project led by Dr. Ahad Rahim, which we continue to support.

In 2018 we signed another contract with Oxford University for FINGOLIMOD research (FTY720) for NPC, directed by Professor Frances Platt.

In 2019 we decided to bet on the project directed by Dr. Mª Eugenia Fernandez, from the University of Oxford on BASE EDITING AS THERAPY FOR NIEMANN-PICK DISEASE TYPE C, of ​​which we are also part.

The year 2019 was also important for us because we joined the great family of INPDA.

In order to carry out all of the above, our Association is financed by partner fees, charity dinners, lottery sales and a multitude of events.

As this year it is being impossible to hold mass events due to the global pandemic due to COVID-19, we have been forced to adapt to the limitations, but our disease continues to advance, and we have to do with it and we have started to do online events, such as Christmas lottery sales and our last event consisted of a virtual charity race, which has been very successful and we will certainly repeat!

We sincerely hope that this situation will pass soon so that we can all meet again and feel the warmth of having our community close. Niemann-Pick... let's keep hope alive!

NEWS FROM SPAIN | fnp.es

In recent years, the Niemann-Pick Spain Foundation has funded basic research carried out at the Severo Ochoa Institute to elucidate the possible effect of Efavirenz, an antiretroviral, in improving the synaptic function of mice with NP-C. The positive results encouraged the development of a plan to conduct a clinical trial. Once again, the support of the Foundation has made it possible for the recruitment of patients with NP-C to begin in October 2020 in an unprecedented trial that aims to demonstrate that the results obtained in mice can be extrapolated to our patients. The trial lasts one year and requires the performance of multiple tests and the determination of biomarkers in a dozen patients over 14 at the Bellvitge University Hospital, a reference center for adults with PN-C in our country.

Next November, the Niemann-Pick Foundation of Spain will organize the XXI International Family-Scientific Congress. Due to the health crisis of COVID-19 this year will be completely virtual. We want to give to our families the opportunity to interact and learn from doctors and professionals about the latest news of the disease and the latest advances in research. We will do it through a virtual platform, and we will have the most prestigious specialists, as every year.

In this period of confinement, we have updated our digital content and recorded two new videos: one about updating the corporative information of the foundation, and another one about family testimonies where they explain their experience as families affected by Niemann-Pick and how they live their day to day . These two videos, coming soon, you will see them on our website (www.fnp.es) and on our YouTube channel.

Also, in this period, we have created new merchandising: a keyring, for 1€, and some masks with the foundation's logo. The proceeds from the keyrings and the masks will be used entirely to finance the clinical trial with Efavirenz.

And despite the fact that it has been a year with very few events, since March we have not been able to carry out any, it is a great pleasure for all of us to announce that the Toledo Night Race will be held on November 28, which is coming soon. This year will be the XIII Edition. We want to acknowledge the enormous effort of the organization and the involvement of all participants.

Some volunteers of the Foundation we are going to accompany the organization on that day, and we are going to help them in everything possible.

We send you a very strong hug from Spain and we hope you are all very well. We will read in the next newsletter!

NEWS FROM SWITZERLAND | npsuisse.ch

Following the INPDA virtual meeting on July 26th and the European virtual meeting organized by the German association on August 27th, NPSuisse decided to support the Berne Hospital in its efforts to take over the Abrabetadex treatment under compassionate use. With the goodwill of all the different parties involved the first delivery of Abrabetadex to a former Birmingham Swiss patient who could not travel anymore because of Covid19 took place on September 16th. So in Switzerland the first objective to ensure the continuation of Abrabetadex treatment as long as Mallinckrodt is able to guarantee the supply of the drug is achieved.

The second target is to find a solution to qualify an equivalent to Abrabetadex in Europe under conditions approved by European agencies. This will not be easy. But what happened with Adbrabetadex can happen with other substances under development. Many substances are in the pipeline but how to bring some successful ones to the market?

NEWS FROM THE UNITED KINGDOM | theholliefoundation.com

The Hollie Foundation is working hard to maintain its grant funding program despite a significant decline in fundraising income due to the Covid pandemic. We continue to support families with grant funding and were delighted to be able to partner with Niemann-Pick UK to contribute towards the Coronavirus Emergency Response Fund. We continue to look for new and innovative ways to raise money to support our funding program and launched the The Hollie Foundation Centurion Lockdown Challenge back in July. The challenge runs until December 2020 and involves participants walking, running, cycling or swimming 100 miles in 30 days in an effort to raise £100 for the charity.

NEWS FROM THE UNITED KINGDOM | npuk.org

NPUK is pleased to say that despite the challenging circumstances 2020 has presented we were able to hold a successful Annual Family Conference & Interactive Workshop…albeit digitally! We had well over 200 attendees, over 50 speakers, and people tuning in to take part from 15 different countries – most of which are friends and familiar faces from the International Niemann-Pick Disease Alliance. We had a wide variety of content and a jam packed schedule, including presentations from the most well-renowned scientists and researchers working in the field of Niemann-Pick, care and support sessions, entertainment, and much more. You can check out the Conference program, here. Remember many of the presentations are available to watch for those who missed out/wish to re-watch for two months after the close of the event, so catch them while you can!

There has been more positive news for Niemann-Pick disease awareness, as NPUK’s latest short film Go Make Memories has picked up more awards! At this year’s PM Society Digital Awards, NPUK was awarded Gold in the Film category and Silver in the Healthcare Charities category, and recently also received the Best Animation Short Award at Uno Sguardo Raro (A Rare Glance) International Film Festival, which was held digitally all the way from Rome, Italy. As NPUK looks towards new and exciting ways to engage with the international community and push for Niemann-Pick awareness, it is reassuring to have a blueprint upon which to build. We hope the INPDA will once again support these endeavors!

An amazing group of scientists working on Niemann Pick Disease have completed their challenge of biking their way from the Department of Pharmacology at the University of Oxford through Oxfordshire, a total of 60 miles in total as part of our GNR (Great NPUK Revival) 2020) fundraising campaign: "...we did it! Today we cycled over 100 km through 20 beautiful Oxfordshire villages to raise money for Niemann-Pick disease charities. A little saddle-sore, but a great, enjoyable and challenging day in support of all the families and patients..." - David A Priestman, Ph.D. Senior Research Associate, Platt Lab (University of Oxford). Massive well done to all involved! Incredible that despite the current circumstances, you were able to still make this happen! Thank you for all of your efforts. If you are interested in supporting our Super Scientists further you can help out their campaign here. Remember that funds will be shared between two organizations fighting to make a difference in the field of Niemann-Pick disease, NPUK and NPRF.

NEWS FROM THE UNITED STATES | nnpdf.org

Like everywhere, COVID-19 has had a major impact on Niemann-Pick families in the US. To support our families NNPDF increased our Family Services programs with activities and online groups every week to give our community a place to connect, discuss, and be together. We even held children’s activities each week with “StoryTime with Cora”, led by our amazing volunteer, Cora Sterling. Our annual Family Support & Medical Conference was held in July, but it looked a little different than originally planned! Rather than a weekend together in San Antonio, Texas, we held a virtual event that took place over three days. Although we would have preferred to be together, the silver lining was that the virtual event allowed families who may not have been able to attend in person to participate as well as many international families. Over 300 families and speakers took part in the event!

We are proud to announce that NNPDF is once again funding important research fellowships! The Peter G. Penchev Niemann-Pick Type C Research Fellowship and the Edward H. Schuchman ASMD Research Fellowship are 1-year awards intended for early-stage researchers. These awards support emerging researchers in pursuit of independent hypotheses and encourage scholarly development about Niemann-Pick Disease. Meet our new researchers here.

NEWS FROM THE UNITED STATES | wyldernation.org

For the first time in 6 years Wylder Nation will not be hosting our annual Living Like a Warrior gala in November due to the everlasting Covid-19 pandemic. As our main fundraising event of the year this will certainly impact our organization, however we are doing what we can to ensure it doesn’t slow us down.

On the research front we continue making strides on our FAAH inhibitor program aimed at addressing the neurological manifestations of ASMD, and potentially other Lysosomal Storage Diseases including NPC. A manuscript describing much of our research around this approach is set to publish in the October issue of EMBO Molecular Medicine.

We have recently extended another year of funding for a Post-Doc research fellow in the lab of Dr. Lola Ledesma in Spain to continue some of this research, along with research into the pathologic relevance of different sphingomyelin (SM) species, and assessing the efficacy of potential treatments aimed at reducing specifically the most toxic SM species. This also coincides with our continued effort to explore potentially relevant biomarkers that could be used to help identify onset and severity of CNS involvement in ASMD.

Additionally, Wylder Nation recently finalized a collaboration agreement to develop a real-world evidence (RWE) data set for acute-neurovisceral and chronic-neurovisceral ASMD that will be critical in advancing potential treatments into the clinic for these forms of ASMD. More details on this collaboration and participation will be announced sometime in late October. we will also be launching a newly updated and revamped website around the same time.

As always, Wylder Nation is blessed to be a part of the Niemann Pick Disease community and we will continue doing what we can to advance potential treatment options into the clinic for our precious children.

NEWS FROM THE INPDR | inpdr.org

For the INPDR, the usual busy conference calendar has been somewhat quieter over the last six months, but it has been wonderful to be able to keep in touch virtually with so many of you. We hope that all our friends from the INPDA continue to keep safe and well while we all get used to the ‘new normal’ as part of the COVID-19 pandemic.

During our last update, we explained that despite the pandemic our work would continue on the development and sustainability of the INPDR. Our new Registry Manager, Dr. Conan Donnelly, joining us at the height of the pandemic, has had somewhat a baptism of fire but is at the forefront of the progress we’ve made over the last six months.

We attended and presented at the NNPDF Family Support and Medical Conference, in July, and the NPUK Interactive Workshop and Family Conference, in September. Of course, these events are usually a highlight for many of us, especially because of the opportunities to spend time together but we are still grateful for the opportunity to share our work and listen to the updates and experiences of others albeit in a virtual setting.

Linked to the NPUK Conference we met with Study Investigators, our Working Group, the Scientific Advisory Committee and the Board of Trustees – it was a marathon day of meetings but really worthwhile in supporting our collaborative working and ongoing strategy to build the Registry from strength to strength.

The INPDR has recently undergone an independent peer review with the aim of ensuring the highest possible standards in terms of working practice and data management. The feedback from the review was overall very positive and we have identified an action plan to ensure we keep moving in the right direction.

As many of you are aware, the INPDR is a global registry so we are keen to keep reaching out to partners and collaborators across the globe. We know many families and clinicians are keen to share their data and experiences with the Registry so they can tell the Niemann-Pick story and facilitate progress for their family and the wider Niemann-Pick community.

To support global recruitment to the registry, we have appointed professional translation services. This means study documents, including information sheets and informed consent, will be available in other languages, which will help secure local ethical approval, as well as patient recruitment.

Another significant document we have been working on is the INPDR’s Strategic Business Plan 2020 – 2022. This will set the tone for our work over the next three years and, as is often the case for those of us working for progress for the Niemann-Pick community, our aims and objectives are ambitious but achievable, particularly if we work together.

The plan will be officially launched very soon so please keep an eye on our social media channels for the latest.

It is encouraging to see the number of patients sharing their data and experiences either through the Clinician Reported Database or Patient Reported Database has grown over the last six months. We will continue to collaborate with our INPDA partners and campaign to boost data in the Registry.

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.

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.

President:  Sandy Cowie (Canada)

Vice President:  Joslyn Crowe (USA)

Executive Secretary:  Toni Mathieson (UK)

Executive Treasurer: Isabel Hontanilla (Spain)

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 edition, please forward your update to Lisa Chavez at [email protected] by June 1, 2020.

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