Message from the INPDA President
2021 has continued to be a very challenging year for the Niemann-Pick Disease community. We have encountered challenges in the develop processes with both adrabetadex and arimoclomol that have been disappointing for the community. In both cases future avenues for progress are being actively pursued with the possible acquisition of Adrabetadex by another pharmaceutical company (pending approval by the courts) and Orphazyme is reviewing their next steps with Arimoclomol. The INPDA remains actively engaged in discussion regarding both of these agents and the path forward.
As I reflect on all of these challenges, it reinforces for me the need for us to work together to address the needs of the Niemann-Pick Disease community, to advocate for resources, and to raise awareness with the public, health care providers regulatory authorities, funders and others. Working together allows us to amplify our voices by using our combined knowledge and skills. The community needs to work together now more than ever. There are still active clinical trials, further regulatory submissions and future developments that require our support, ongoing input and advocacy to ensure that the needs of the Niemann-Pick Disease community are understood and recognized.
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As we strive to complete this work I want to remind everyone about the 2021 INPDA Virtual Face to Face meeting that is taking place on Sunday, August 1, 2021. Two years ago we had a very successful meeting in Lyon and set out an aggressive to do list. Due to COVID 19 restrictions we were not able to meet in person this year and as such are hosting a virtual meeting. This meeting will give us the opportunity to get an update on current status, identify high priority goals for the next year and establish our work plan. I look forward to the opportunity to meet with you all, we have so much to discuss and much we hope to accomplish. If you are an INPDA member and have not registered as yet for this meeting please make sure you do so. Also please mark your calendars for the 2022 in person INPDA Face to Face meeting July 30 - August 1, 2022. I am looking forward to be able to meet all of you in person again.
I also want to take this opportunity to thank all of you for all that you do for the Niemann-Pick Disease Community. I know that for many of you this an additional job on top of your employment and home life. What you do has value beyond measure and I cannot thank you enough.
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Niemann-Pick Argentina
Dear friends and members of the NPD community, our report from Argentina this time is tinged with the uncertainty caused by this second wave of COVID, to a one-year confinement situation, after activities were released, now again the government is forced to take restrictive measures and return to phase 1 to try to avoid an increase in the contagion curve. Although we have only had one case among patients with NPD, which was not serious, most of the patients with rare and chronic diseases have had delays and deficiencies in their treatments, and that decreased their quality of life. We had networks to alleviate the situation of the most vulnerable, but what we do is not always enough.
To good news that supports our institutional work is that the President of our Association has obtained the necessary votes to represent the group of rare diseases in the patients board of CONETEC (National Commission for the Evaluation of Health Technologies) (an organization similar to NICE of UK) and was also appointed secretary of the CEPOF, Congress of Rare Diseases, organized by ALAPA (Argentine Alliance of Patients) to be held on June 21 - 23.
As always, we keep moving forward and waiting for the long-awaited definitive treatment for our disease. From Argentina a hug to all and take good care of yourselves.
Marcelo Minotti, President
Niemann-Pick Argentina
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Australian NPC Disease Foundation
We are pleased to share the following updates from the Australian NPC Disease Foundation:
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Australian NPC Disease Foundation held a virtual conference this month. All interested members were invited to join. The conference featured the latest clinical and research updates, as well as, an opportunity to connect with the rare people this disease directly affects. Our keynote speaker was Professor Frances Platt (University of Oxford, UK). She studies glycosphingolipids, fatty substances that build up inside the cell in lysosomal disorders. Her research led to the development of miglustat, an approved drug for the treatment of metabolic diseases such as Gaucher disease and Niemann-Pick disease type C.
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Niemann-Pick Canada
Niemann-Pick Canada continues to support research and grow as an organization despite the ongoing challenges posed by COVID 19. We have not been able to resume in person fundraising events as yet due to ongoing pandemic restrictions in Canada but work continues. Niemann-Pick Canada is in the process of redeveloping our web page and social media presence with support from members of the board and the community.
Niemann-Pick Canada is proud to continue to support research grants at a number of labs including Dr. Ronald Cohn at The Hospital for Sick Children in Toronto, Dr. Mark Schultz at the University of Michigan, and Dr. Kevin Vaughan at the University of Notre Dame.
In addition Niemann-Pick Canada is working with the INPDR to support the role out of the registry in Canada and is advocating for access to therapeutics and clinical trials in Canada.
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Niemann-Pick Selbthilfegruppe
In Germany we are stopping treatment of Adrabetadex in Münster and are at the start of Orphazyme compassionate use treatment for 20+ patients in Germany.
We have various meetings with regard to next face to face or virtual German family meeting, which may be in November.
Lysonet membership on "snooze" due to lack of manpower.
We are proud to continue the funding of Dr. Frank Pfrieger for Pfrieger's Digest and cyclodextrin research.
German Selbsthilfegruppe executives are taking part on AMNOG-Training (a new German law Act on the Reform of the Market for Medicinal Products - for more details in English language please refer to Benefit Assessment of Medicinal Products - Gemeinsamer Bundesausschuss (g-ba.de).
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Adults, Children and Metabolic Diseases (VKS)
On May 15, the VKS organized an online meeting for parents and patients with NPC. Guest speaker Professor Dr. Wijburg gave an update on developments in the Netherlands. The presentation was about therapies and possibilities and there was a lot of room to ask questions. This year we also had a contact moment for patients and their families. Very valuable conversations have arisen. We feel like a close group of (parents of) patients, who support each other in many different ways. We look forward to the next meeting!
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Niemann-Pick Fuenlabrada Association (ANPF)
These last months has been hard for our Association, in October 2020 we lost Raulillo, son of Raúl and Salud, founders and current president of the Association, to whom we want to show our support and gratitude for continuing ahead in this fight despite the difficult moment that they are living. We just can say: THANK YOU! Raulillo was a referent of fight, courage and will to live. For him, for the others that were gone, for those who stay and for those who will come… We will continue “keeping the hope alive”.
At the beginning of this year, a breath of hope arrived. An official release from the University College of London, Fundación Columbus, Vector Core and UK MRC (UK Medical Research Council), was issued, reporting that the necessary financing has been achieved and the pre-clinic tests in gene therapy for NPC are going to start. Our Association has been collaborating with the UCL and Dr. Ahad Rahim’s team since 2015. For this reason, we feel very proud of being part of this project.
Finally, on May 22nd took place our V Scientific-family Conference, combining, for the first time, an online and a presential format. This encouraged the participation and repercussion in other countries, both Spanish speaking and other European countries. In this conference, speakers, doctors and patients’ relatives had the chance of conversing, following the last news regarding NPC disease and, sharing a very nice day”
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Niemann-Pick Foundation
of Spain
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The Niemann-Pick Foundation of Spain continues to work every day trying to offer their families and the rest of the Niemann-Pick community the latest advances and the latest news about our entity and Niemann-Pick disease. Since last January, there have been many actions that we have developed from Spain. As you know, our Foundation works around three objectives: research, divulgation and family attention. The three are very important and we try to comply them with our daily work.
As we already mentioned in the previous newsletter, the Niemann-Pick Foundation of Spain has led the clinical trial with Efavirenz because we had believed in this project from the beginning and we made all the means available to specialists so that it could be carried out. Despite the fact that the trial start date had to be postponed due to the pandemic, it will begin on June 21 at the Bellvitge Hospital in Barcelona.
From the Foundation we know how important is that patients who participate in the clinical trial have the support that they need, and we will offer this to all participating beneficiary families: we organize the logistics of the trip, including the hours of visits and medical tests, accommodation, transportation and everything they need to make their stay the best possible and the visits meet their objective, without them having to have any added worry.
Every year, in January, we make the annual planning of family attention for patients, and we calculate how we can help them to pay the expenses derived from them. The pandemic made going and attending therapies an added difficulty, and we are working so that the pandemic does not make it difficult for them, again, to be able to go with the assiduity they require, to specialized centers and qualified professionals to help them in their day to day. We want to continue supporting families with affected people so that the situation derived from COVID19, still in force in many areas of Spain, affects them as little as possible.
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We have also worked hard to explain to the world about Niemann-Pick disease and about our Foundation. As all of you know, February is a very important month for rare diseases, and specially for us: on February 17th we commemorate the National Niemann-Pick Day in Spain, a date that we mark on the calendar specially to raise awareness in Spanish society of the importance of giving visibility to rare diseases. For this day we elaborate the traditional poster of every year. This year our claim was "A clinical trial for life".
In addition, on February 28th we also commemorate the World Day of Rare Diseases, and we join the campaigns promoted by FEDER, EURORDIS, ALIBER and other organizations. We share the commemorative material and participate in events and interviews.
We have also prepared, throughout these months, two corporative videos: a corporate video, so that everyone can get to know the foundation better and who we are part of it; and an awareness video about the effort that we made to be able to carry out the clinical trial that we will start with Efavirenz. You can visit it here.
Finally, we have actively participated in all INPDA meetings, and in our bimonthly internal meetings. It is very important for us to because this contact allows us to inform families of all the advances that there are on the disease, the latest news and updates about Niemann-Pick. We are always very motivated and excited about the new challenges that arise.
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We hope that all of you are well, and that you have had a fruitful month of work. Together we will achieve all the objectives that we set for ourselves.
We will read in the next newsletter!
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Niemann-Pick Suisse hosted held their second Gene Therapy Activation Meeting (GAM2) virtually on April 29, 2021. The goal of the meeting was to discuss status and align on the best path forward for the use of gene therapy approaches for the treatment of Niemann-Pick type C.
A summary of the discussion can be found here.
Christoph Poincilit
President of NPSuisse
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Here in the UK, we are starting to look forward to brighter days ahead as COVID restrictions begin to ease …and the weather gets a little warmer!
At Niemann-Pick UK we are beginning to make plans for our 2021 Annual Family Conference & Interactive Workshop, which is going to be slightly altered this year. As 2020 was the first year since our Annual Family Conference & Interactive Workshop began in 1992, that our community could meet in person, we adapted to a digital way of doing things, but this year we are more hopeful that some of our community can meet in person. In March NPUK Chief Executive, Toni Mathieson, shared with our community the plans for 2021, combining a digital element of expert online presentations and updates from our dedicated clinical and research professionals and digital networking events which international members of the community can attend, with a series of smaller face to face meetings for our NPUK families. We are looking forward to making those treasured memories that are so vital in our community.
In April we celebrated a monumental anniversary, thirty years of Niemann–Pick UK! We are so proud of this achievement and made sure to celebrate it in style! We spent the month looking back on the past thirty years, uncovering some never seen before photos and precious memories, and sharing them with the community on our social media. It was incredibly inspiring to see how far we have come from 1991, when just ten families affected by Niemann-Pick diseases met for the first time at a satellite seminar titled “Niemann-Pick Disease” at the Research Trust for Metabolic Disease in Children (RTMDC) Conference. The rest is history as they say, and we are proud of each and every supporter of the community, whether new or old, it is a privilege to support the families, friends and individuals who help make NPUK so special…which of course includes a great deal of INPDA members too.
We continue to work hard to keep in touch with our community, and more than a year on from the start of COVID-19 restrictions we have managed to “go digital” in a number of different ways. One of the mainstays of our week now is the “Time to Talk” series which works to connect our community via Zoom, for an informal chat and to check in on one another. We have also had weekly updates during lockdown in the form of a video series called “NPUK Monday Morning Check In”, and we have been refocusing on other awareness campaigns once side-lined due to COVID-19. As ever, watch this space!
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National Niemann-Pick
Disease Foundation
This summer we will hold our NNPDF Family Support & Medical Conference, taking place as a virtual conference event. We anticipate over 300 diagnosed individuals, family members, researchers, clinicians, and pharmaceutical industry participants will come together for the weekend-long interactive events consisting of clinical and research updates as well as our family support break-out sessions.
The events are free for families and for medical & research professionals making it a great opportunity to take advantage of the online format to learn about the latest news in Niemann-Pick disease. Conference events take place July 29th - 31st, followed by the INPDA Biennial Meeting on Sunday, August 1st. To register for these events, go to nnpdfconf.org.
US families have faced several challenges over the past few months in NPC. Uncertainly over the sale of adrabetadex to Mandos LLC looms in bankruptcy court, access barriers placed on its US expanded access program, and the recent FDA decision of a Complete Response Letter for Arimoclomol have made our families’ voices more important than ever. In early April, NNPDF held an FDA-requested Listening Session on Niemann-Pick disease. In one short hour, our leadership, including clinical leaders and patient-experts, conveyed the breadth of challenges that we are facing as an ultra-rare disease and voiced our unwavering support for all the experimental therapies in our pipeline. We stressed the urgency of access to safe and effective therapies for our patients now, a reminder to the FDA that our patients don’t have the luxury of waiting years more for an approved treatment in the US. Following this event, petitions have been signed in support of specific therapies and letters have been sent to FDA members. As the national patient organization, we continue our steadfast support for Niemann-Pick families’ ultimate goal of having FDA-approved treatments in the US.
Our Family Services programs are busier than ever, offering forums for families to connect and share. This spring we launched our Navigating Together program which provided small-group support sessions for bereavement and loss. Sessions were no-cost to family members, required an 8-week commitment, and were led by a trained counselor.
We are also pleased to announce the launch of a new scholarship. The Joele Ruppert and Joseph Colton ASMD Scholarship provides one-time scholarship funding of $500.00 to individuals diagnosed with ASMD for studies in post-secondary (high school) degrees, including two-year colleges, four-year colleges, vocational schools, and other post-secondary institutions. The Scholarship fund began in August 2020 when Evren Ayik, at that time a graduating high school senior, was awarded the Sanofi Genzyme TORCH Award for his work in advocacy for individuals and families affected by ASMD. The NNPDF, in gracious acknowledgement of Evren's wishes to endow a scholarship for other students with ASMD, supported his proposal for the financial contribution that is offered to the TORCH Award recipient's chosen non-profit organization serving the rare disease community. Learn more.
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The International Niemann-Pick Disease Registry
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Following a review of our Clinician Reported Database involved clinicians, researchers, industry representatives, the INPDR are pleased to report that we have completed the NPC database amendment with ASMD to follow soon after. The new database will be rolled out over the coming weeks to our 18 existing sites and will now include data on adverse events and co-morbidity. There are a further 47 sites that are currently in the pipeline for onboarding to the INPDR with the potential to capture data for more than 1000 patients internationally. While onboarding and recruitment has been impacted by the COVID pandemic, the registry has made important changes to accelerate recruitment. This includes facilitating postal consent so patients and families do not need to attend clinic to decide to take part in the CRD. The registry has also translated our documents into ten languages which addresses another significant barrier to registry recruitment.
Last month the registry reported progress on its Patient Reported Database review which will be extended to include a broader suite of information including quality of life, carer experience and unmet needs. We recently shared our draft questionnaires at a focus group of NPC and ASMD families to seek their input on appropriateness and acceptability. We received positive and constructive feedback and are incorporating these changes into the database review. Several important themes arose from these sessions including the provision of feedback to families who take the time to participate in the patient reported database. The INPDR will look forward to liaising with the NPD community to further consider how best to address this important question. The INPDR wish to thank all of the focus group participants for taking them time to provide their thoughtful and considered input.
The INPDR will be taking part in the forthcoming INPDA and NNPDF Meetings over the coming weeks where we look forward to providing more updates on registry progress and particularly on the patient reported database review and how the data will be used to support advocacy and research.
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INPDA Member Spotlight
In such a big organization as the INPDA we want to show just how important each and every member group is in making the INPDA work.
Check out our INPDA member Spotlights to learn more about our international members!
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Multi-language Resource
As we all continue to navigate challenges related to Covid-19, we thought this may be a helpful resource. Public Health England has provided Covid-19 Updates in several different languages. If you consider this a helpful resource for you and your organization, please feel free to share this link.
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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 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 October edition, please forward your update to Lisa Chavez at lisa.chavez@inpda.org by September 15, 2021.
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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