Message from the INPDA President
It is hard to believe that just over a year ago we were all meeting face to face in Lyon at our biennial meeting of the INPDA. It seems both like yesterday and lifetime ago. The past few months have brought about unprecedented changes and challenges for us all. COVID 19 has impacted all aspect of our lives and has impacted the services and supports that we depend upon on a daily basis. For many it has brought changes to work, home and community. And it has brought an unexpected level of uncertainty and anxiety to all. It feels very much like we have started on a new journey with no path or map to serve as a guide. COVID 19 is new, but travelling an unknown path to an uncertain destination is not new to those in our community. We have learned through our experiences that although the path is not clearly marked the journey is not nearly as overwhelming if we are not travelling the path alone. Please remember that although we are all experiencing the impacts differently you are not travelling alone.
Despite all of the changes the INPDA continues to work collaboratively with our members, clinicians, researchers and the pharmaceutical industry in our efforts to change the path for those living with Niemann-Pick Disease. It will mean in the short term an increased reliance on technology to facilitate communication when we are not able to travel and meet face to face but it has not altered our core work. Clinical trials are ongoing in both NPC and ASMD and regulatory authorities are working with the pharmaceutical industry and patient advocacy groups to minimize any disruption of the trials caused by changes necessitated by the pandemic. The INPDR is continuing to grow with increasing patient enrollment and a new patient reported data subset that will be ready for use in the very near future.
The challenges posed by the pandemic have also resulted in some brilliant responses by many of our member organizations in finding new ways to utilize technology as a way to support their community and keep people connected despite the restrictions in place in response to the pandemic. We have seen the use of internet based conference calls, story time for the kids, games nights, opportunities to connect and seek support. And we are now seeing the use of internet meetings to replace some of the events that have had to be cancelled due to travel restrictions, social distancing etc. We are all learning new skills and strategies and these will have positive impacts for our community in the future.
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I want to take a moment to thank all of you for all you are doing. I know that everyone is juggling a lot at present. Please remember to be kind to yourself. We spend much of our energy looking out for others and it is important to remember to look after yourself as well. This is new to all of us, none of us are going to get it right all of the time. Take a deep breath, take a break, reach out if you are feeling overburdened. Remember, although we are apart we are not alone and the road ahead is never as scary if you are tr
avelling with friends.
“Learn from yesterday, live for today,
hope for tomorrow” – Albert Einstein
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Australian NPC Disease Foundation
Not much is happening in Australia with all of the Covid-19 restrictions, but we held our first online raffle for Mother’s Day which raised approximately $3500. We are holding a rainbow birthday online raffle for foundation members with July birthdays in hope to do the same. Preparations are still going ahead for the October family conference; however, our international speakers will now be virtual instead of physical due to restrictions. We now have a patient liaison for children aged 0-16 years, Pip Johnston, as well as a liaison for patients 16 years and older, Mandy Whitechurch. Our webpage is continually being updated and we are spreading awareness through our social media. Research continues, with our scientist working during Covid-19 at .06 fte. The Australian NPC foundation is donating $7000 to Fran Platt’s work.
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Association Niemann-Pick
& Batten Brasil
Updates from ANPB are as follows:
- On Friday, May 29th, we held a Virtual ANPB families meeting. We have had 37 people from 16 Brazilian states in this meeting. It was an amazing moment of interaction.
- For the end of June, we are planning the Niemann-Pick Scientific Journey, on a digital platform, with the participation of Physicians, Neurologists, Geneticists.
- We monthly have ANPB directors' virtual meetings to discuss our planning and actions.
- We are going on with our social project to support needy families, with food donations.
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Niemann-Pick Canada
The work of NP Canada continues but the COVID 19 pandemic has limited our ability to initiate new activities or fundraising events. Despite these limitations NP Canada is happy to report that it is continuing to support research projects with a number of partners. Recent projects include a study at Toronto’s Hospital for Sick Children with Dr. Ronald Cohn and Dr. Evgueni Ivakine regarding the use of gene editing to understand and treat Niemann-Pick disease type C, a project at the University of Michigan with Dr. Mark Schultz titled Cell-ecting the right targets-using stem cells to discover new NPC therapeutics, and a study at University of Norte Dame with Dr. Kevin T. Vaughan on the direct stimulation of StARD9 as a strategy to overcome Niemann-Pick Type C disease. Work in the labs is ramping up as restrictions from the pandemic are easing. NP Canada continues to work actively with partners in the Niemann-Pick community including the INPDA, the Ara Parseghian Medical Research fund at Notre Dame and many others. We thank all of our donors, volunteers and supporters along with the researchers and clinicians who are helping to propel us forward on our quest for a cure.
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Niemann-Pick French Association
Since our last newsletter, the explosion of Covid-19 with its health and social emergence has shaken the whole world and, consequently, the entire NP community. To deal with this pandemic we have set up a remote support program by phone and by mail that is open to all people with disabilities and weakness in collaboration with the Covid-19 Civic Reserve, which is promoted by the French government. This has enabled us to stay in contact with all the members of our community as a priority; our connection is also thanks to the massive response from volunteers who responded to our request. At the same time, we have distributed a document, thanks to the collaboration of the G2M sector, with all the recommendations and essential actions for all people affected by a lysosomal disease.
We have also participated in all the surveys and teleconferencing promoted by the networks to which we belong, in particular Metabern EURORDIS etc. Unfortunately, because of this pandemic we were forced to cancel the information day on Niemann-Pick diseases and the evolution of research on this subject that was planned for the beginning of June in Paris. Nevertheless, we had the pleasure and the honor of being involved as a consultant in a protocol assistance procedure of NPC drug from the EMA.
In the month of April our organization changed the head office’s name to
Niemann-Pick France
so that it is closer to the name of all the other confederate organizations around the world. We hope that medicine and research will soon find an effective solution against this virus, thus giving us the opportunity to try to return to normal and face with all means our priorities; that is to say, to move research into NPD rapidly.
We are looking forward to partnering with INPDA awareness campaigns and looking into next steps needed to roll out from the INPDR in France and overall.
PROGRESS TOGETHER. Nothing is impossible, together we all go far!
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Overcoming Lysosomal
Diseases
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HAPPY BIRTHDAY!
RARE BUT NOT ALONE!
VML celebrating 30 years
May 16, 1990 - May 16, 2020
Our annual get together unfortunately being cancelled due to the sanitary situation,members were present on this special day by their thoughts good wishes and support.
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Niemann-Pick Selbthilfegruppe
Due to Coronavirus restrictions, we have cancelled our annual family meeting. Our Ethics Committee has given approval for the INPDR. We had our first ASMD web meeting, in cooperation with Sphincs/Hochheim, about the latest trial results (olipudase, alfa, natural history study and next steps for INPDR.) We are pleased about the numerous people who have participated, and about our successful meeting. Niemann-Pick Selbsthilfegruppe, represented by Vice President Jana Hirschfeld and ASMD delegation Pia Appel, took part in the rare disease event in Mainz this year. In addition to many informative talks regarding rare diseases, we were able to speak about the importance of self-help groups to individuals with Niemann-Pick. Also, television was on site for interview - in the end, it was a successful event with good exchange. Christian Rehfeldt, a very committed member of our group and our representative for the German Rare Disease Umbrella Organization ACHSE also represented our group at the rare disease events in Halle and Dessau.
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Niemann-Pick Association
in Norway
In Norway all activities planned had to be rescheduled due to Covid 19.
- April- May: Our organization has helped the National Center for rare diseases to apply for funds to establish a childrens hospice. We are optimistic.
- Annual Meeting has been rescheduled for June 27th and it will be digital meeting using teams.
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Niemann-Pick Foundation
of Spain
Once again, INPDA gives us the opportunity to share what we have been doing during these past months with our counterparts, and to share news of what has happened in the Niemann-Pick Foundation in Spain.
As you know, the health crisis that we are experiencing around the world has forced us to postpone some of the projects that we had as a foundation, but we also continue to work, adapting to the new circumstances, and we want to share with you everything that is happening in the Niemann-Pick Foundation of Spain.We already informed you in the last newsletter that this year we were going to start a clinical trial with Efavirenz, a trial funded 100% by the FNP. Obviously, this trial is paralyzed by the situation of COVID-19, but as soon as possible we will start the procedure again; hopefully we will start the trial, if it is possible, this year. We will keep you informed of all the progress. We are very hopeful!
This year we again celebrated the National Day of Niemann-Pick, on February 17th. On this day in Spain we commemorate the disease and try to give it as much visibility as possible. We had an article in the press and held several activities. In addition, in these first months of the year, we held musical events, solidarity films, charity raffles, a charity meal, and more. We had other events ready for this spring, but we had to postpone them to later when the health crisis allows.
These weeks of confinement are very hard for everyone, and that's why the Foundation wanted to make a video for all the families, with photos that they sent us, to send a message of support and encouragement.
Click here
to see video. We made this video to remind our community that we are all united and that the mutual support is important. All of them send you, through this newsletter, a lot of encouragement to move forward. In addition, we are preparing another video with some of the activities that our families are doing in their homes, during confinement, to show us what their day-to-day life is like and how they continue to work and live with the disease. When we have it, we will post it on the website so you can all see it.
We also want to share with you important news for us: we have a new website! We have tried to make it more modern, more visible, and more intuitive. You can check it at:
www.fnp.es.
On the page you will find information about the foundation, the disease, the latest news, the events we have done, and many more news. We are just crafting it, and we hope that it will be finished shortly. We are excited, and we are putting a lot of effort into making it a modern and active website for all our news.
Finally, we want to inform you that on February 29th the government of the Niemann-Pick Foundation of Spain was renewed. The positions of President, Secretary and Members have been renewed. The new President is Cecilia Bertran, the new Secretary is Cristóbal Fernández, and our new member is Maria Cruz Rubio. The members who are stepping down are Isabel Hontanilla, as President; Oliver Abellán, as Secretary; and Enrique Pilar as Vocal. We would like to thank the three outgoing patrons for their years of dedication, their work in the foundation, and all the work they have done. They have been three fundamental pillars for us, and their support and involvement have been key to the development of our foundation for so many years. To the new members, we welcome them with all our affection, and they will have our full support to continue working for those affected and to lead the Foundation.
A lot of encouragement to everyone from Spain, and we want to read the news that the rest of the countries have. We will read about each other very soon!
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Niemann-Pick Suisse
Niemann-Pick Suisse is a part of organizing the Loire Valley Meeting. This year’s meeting to be held in October but had to be cancelled due to Covid-19. The LVM Society is looking forward to gathering in 2022 to celebrate the 10th year anniversary of the event. Abstract presentations on NP-C will be collected and compiled into a document to replace the meeting summery for 2020. The aim is just to keep associations and the scientific community up-to date to facilitate future progress.
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NEWS FROM THE UNITED KINGDOM
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npuk.org
Niemann-Pick UK
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NPUK has been working hard to support, inform, and entertain our community during these "unprecedented and challenging" times surrounding the global COVID-19 pandemic. As a way to adapt our support service, and keep individuals affected by Niemann-Pick, and their families, active, we developed the Social Not Distant Campaign which set out a weekly schedule to better meet our community's needs. It included; interactive votes, cooking and other activities to keep busy, "Time 2 Talk" (a virtual coffee morning), NPUK After (a fun and positive web series), and much much more! We also established a dedicated COVID-19 page on the NPUK website, which we constantly update with the latest information as and when it is announced:
npuk.org/coronavirus-covid-19.
Unfortunately due to the potential impact of COVID-19 on those most at risk, and the uncertainty of the current climate, NPUK has had to cancel the physical version of our Annual Family Conference & Interactive Workshop this year. NPUK Chief Executive, Toni Mathieson comments: “We have not taken this decision lightly, our Annual Family Conference & Interactive Workshop are of great importance to us and to the many patients, families and professionals who attend year after year. Our time together each September is of true value and will be greatly missed by all. We have been closely and continuously monitoring the COVID-19 situation as it has developed both here in the UK and globally, adapting our support service and responding to the evolving needs of our community. We are mindful of our shared responsibility to support efforts to stop the spread of COVID-19, of the fact that many in our community are considered to be in the vulnerable category and of the challenges for our global delegates and expert speakers. Therefore, for the first time in our history, we will join together virtually, instead of in person..." To read the update in full, please
click here.
In more positive news we are hoping to continue the development of an ASMD NP-B focused awareness, campaign, which will centre on the concept of “invisible illnesses”, and seek to shine a light on those that are often overlooked or under represented. We have many ideas surrounding the campaign, such as the potential for a wide range of dynamic and striking content (blogs, graphics, video interviews, short film etc) – so to ensure we were on the right track and to gauge interest we recently had a focus group with ASMD patients/families in the UK and abroad. It was firstly lovely to have everyone together again, albeit on Zoom, and we were incredibly thankful for such a good turnout – the meeting ended with a number of stories and experiences shared, many important crucial details which will help to inform the campaign noted, and a number of laughs enjoyed along the way. We will now go away and use these ideas to develop further content, which we will share again with the INPDA community when ready – if you wish to input into this campaign we would love to hear from you, simply contact John at
john@npuk.org
and he can provide further details.
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National Niemann-Pick
Disease Foundation
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The past few months presented unexpected challenges for our community. COVID19 forced us to make changes to our daily life, learn new phrases like “social distancing”, and be even more vigilant about protecting our loved one’s health. At NNPDF we held several webinars as part of our
Community Update Webinar Series
including clinical updates by Mallinckrodt Pharmaceuticals and Orphazyme, as well as a program on “SelfCare in times of crisis and stress”. We quickly added more family services program content to our weekly schedule to meet the growing needs of our families. Small group discussions have been held by Zoom to provide a space for families to gather, share, and decompress.
Perhaps the biggest change we needed to make was to change our Family Support & Medical Conference to a virtual conference event. We will continue to provide high-quality educational and clinical sessions but this year we will all participate from our own homes. We hope that you will
join us
and take part in the exciting interactive events we have planned from July 10-12th.
We are pleased to share that the INPDR implementation is progressing in the US. Our clinicians are ready and we are continuing to educate families on the importance and ease of registering their loved ones. NNPDF is continuing to play an important lead role in supporting the registry in the US.
We are also launching a national survey designed to understand challenges related to accessing treatments and insurance coverage in the US. The will be the most comprehensive survey of the Niemann-Pick community to date and will yield us valuable data to share with opinion leaders and decision makers in the regulatory field as well as those responsible for payment, insurance, and more. We will publish the results and learning from our survey at the end of 2020.
Our Board of Directors has also changed recently. We thank Lisa Chavez, Anne OConnor Smith, and Darrile Papier for their dedication and service to NNPDF. Their tireless work has brought our organization to a new level of high quality family support and advocacy. We are proud to welcome our incoming Board members to our team: Kara Ayik, Anthony Leoni, Paul Merrigan, and Michael Smith. Send them a
welcome
if you’d like!
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International Niemann-Pick
Disease Registry
Despite adjustments being made to respond to the impact of the COVID-19 pandemic, work on the development and sustainability of the INPDR continues as we welcome a new Registry Manager.
Dr. Conan Donnelly joins us from the National Cancer Registry Ireland and brings with him a wealth of skills and experience. Some of you will have already had the pleasure of e-meeting him, and he looks forward to more collaboration with the INPDA network over the coming weeks and months.
As a global registry, the INPDR understands that the impact of COVID-19 on all our stakeholders is varied, from patients through to professionals. Many of the team that work for the INPDR are based in different locations, so the Coronavirus pandemic has not had an adverse effect on the way we work. In fact, it has helped to improve the way we keep in touch as a team. We have not been able to arrange any face-to-face meetings, which are usually very productive, but we have increased the number of virtual meetings and updates to keep everyone up to speed. However, we note the impact being felt by patients, families, and clinicians. In some cases, the often already limited resources available for Niemann-Pick patients have been further diverted to concentrate on the response to COVID-19. For some clinical centres, the ability to recruit patients and add data to the Clinician Reported Database has been restricted. For others, as patient consultation appointments are moved online, there has been an opportunity to get on top of data entry. These challenges have presented an opportunity for the INPDR team to focus efforts on our governance, policies, and procedures. Conan has been at the forefront of work and improvements in these areas.
The whole team has also been making progress on collaborative projects in the US, France and Canada. We attended the online European Conference for Rare Diseases and Orphan Products (ECRD 2020 and presented a poster (which you can find
on our website
). It was great to see so many passionate advocates and speakers there and for us to explore opportunities for collaborative working. The take-home theme from the event was that we are stronger together and through collaboration we can shape advancements for the rare disease community… but you already knew that! It was also lovely to chat with colleagues from Niemann Pick Selbsthilfegruppe!
Next on the agenda for the INPDR is exciting and informative work with the NNPDF as we take part in their virtual Family Support and Medical Conference – it has been very productive to connect with them over the last few weeks. Furthermore, we have successfully tested the Patient Reported Database and are working on encouraging patients with existing accounts reactivate their accounts and publicize the PRD to patients who have not yet signed up.
There is a campaign running through our social media channels (Facebook, Twitter and LinkedIn) aimed at improving understanding of the INPDR for patients and their families, and urging them to sign up to the Patient Reported Database. Please encourage your families to look out for updates and use the opportunity to ask any questions they have about the INPDR. Thank you to those of you who continue to engage with and share our content. Patients and their families can also visit our website to sign up to the PRD, find Frequently Asked Questions and more details about the Registry.
If you have a website, newsletter, webinar, online event or podcast we would love to contribute guest content, so please get in touch with
angela.wilson@inpdr.org
or through the website and social media channels to make arrangements.
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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.
Cyclo Therapeutics:
The Cyclo Therapeutics, Inc. team is pleased to provide this update on progress in clinical trials for Niemann-Pick Disease type C (NPC). Cyclo Therapeutics is a clinical...
READ MORE
ESCAPE Bio:
ESCAPE Bio Inc., a precision neurology company developing targeted therapies for genetic forms of neurodegenerative diseases, is rapidly progressing a...
READ MORE
Evox Therapeutics:
Evox Therapeutics, based in Oxford, UK, is advancing a pipeline of exosome-based therapeutics for a variety of rare diseases, including Niemann Pick Type...
READ MORE
IntraBio Inc.:
Notwithstanding the challenges of COVID-19, IntraBio’s is pleased to share that the IB1001 development program for Niemann-Pick disease type C continues to move...
READ MORE
Mallinckrodt Pharmaceuticals:
Mallinckrodt Pharmaceuticals continues to evaluate the totality of clinical evidence for adrabetadex (VTS-270) which includes data from VTS301 Part A/B (our...
READ MORE
Orphazyme:
Orphazyme Update Re: Arimoclomol Clinical Development Program -
As the global coronavirus pandemic has reached nearly every corner of the globe, its
...
READ MORE
StrideBio, Inc.:
StrideBio is a product-driven, fully integrated gene therapy company focused on creating and developing innovative genetic medicines with life-changing or curative
...
READ MORE
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Who We are
The International Niemann-Pick Disease Alliance (INPDA) is a global network of non-profit organisations 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 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
Lisa.Chavez@inpda.org
by October 1, 2020.
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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