Message from the INPDA President
October is Niemann Pick Disease awareness month. It is hard to believe that October of 2021 is already here. It feels like our Virtual Face to Face Meeting in August was just last week. It has been a busy time for the Niemann Pick Disease community with a lot of challenges. Never has the need for awareness of Niemann Pick Diseases been more apparent. In order to achieve the aim of the INPDA to accelerate progress in the fields of Niemann Pick Diseases (NPC & ASMD) awareness is key. There are multiple targets for our awareness efforts:
- Awareness with regulators and pharmaceutical industry members to ensure they understand the unmet needs of this community and to accelerate progress towards approved therapies
- Awareness with clinicians to improve the diagnostic odyssey faced by patients and families
- Awareness with researchers and scientists to accelerate research in NPD
- Awareness with funders
- Awareness for newborn screening
- Awareness in the community as a whole
The INPDA and it’s member organizations have been sharing Niemann Pick Disease awareness materials through social media campaigns, speaking engagements, news media and more throughout the month. I wish to thank all of our members for their efforts, as I know many are still experiencing challenges related to COVID-19 that have required them to seek out new opportunities compared to those used in the past. There are links to awareness materials available on the INPDA website including the information portal and the Think again Think NPC campaign.
Of course, awareness activities do not occur only within the month of October. In August, INPDA joined the NNPDF and the Ara Parseghian Foundation in a listening session with the FDA regarding NPC. The discussion included input from clinical experts and researchers who provided their expertise in the field of NPC along with US based patients and families who could address the lived experience of NPC. You will find a summary report from this meeting on the INPDA website.
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As I look forward to the year ahead, I recognize the INPDA has much to do to reach our goals. The INPDA set out a work plan for the year ahead at our Virtual Face to Face Meeting in August 2021. I am excited to keep working together to move us forward towards our shared goals. I am also looking forward to the time we are all able to connect again in person.
Thank you to all for taking the time to connect with the INPDA. Please enjoy the updates that follow as they give you a snapshot of the efforts happening around the globe. Together we can move mountains.
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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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October 21st - Florey Institute of Neuroscience online public lecture presenting the latest research on NPC. Presentations from Dr. Ya Hui Hung (scientist predominately funded by the Australian NPC Disease Foundation), Professor Mark Walterfang (world adult NPC clinician) and Mandy Whitechurch, founder and Vice President of the Australian NPC Disease Foundation.
- Commencement of Christmas raffle will be taking place.
- Due to COVID restrictions in Victoria, our fundraising gala ball has been postponed to February 2022.
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Check out our newest release of merchandise street wear. See npcd.org.au for what’s new!!
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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 look forward to the risks surrounding this virus be reduced with increased vaccinations that we can begin planning an in-person fundraising event in 2022. In the meantime, we are excited to share a new logo, new website (niemannpickcanada.org) and presence now on social media platforms (Facebook, Twitter, Instagram and Linked In). Please check it out and follow us.
Niemann-Pick Canada is proud to continue to support research grants 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.
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Overcoming Lysosomal Diseases
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VML organizes a symbolic walk every 1st Sunday of October (Lysosome walk). It is a way of sharing our common fight against rare diseases, disability, and memory of our loved ones who are no more with us. It also means being together symbolically, in thought, despite the geographical distances: "Rare but not Alone".
This year, the walk took place simultaneously throughout France and abroad on Sunday, October 3rd.
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Also, our annual 'Operation Chocolate' will be underway in the month of October - 26th campaign 'LysoSolidarity 2021' - ordering chocolates and other Christmas specialties from VML with a generosity donation. Donations received during this operation allows the association each year to achieve half of its missions. This enables VML to guarantee the continuity of our actions in favor of patients and their families.
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Niemann-Pick Selbthilfegruppe
- Unexpected resignation of our second chairwoman
- Face to face family meeting in Kassel on October 16 with the focus of restructuring and reorientation of our group
- 5th Edition of Pfrieger’s Digest online translated in English and French
- Two runs for our Group: Many thanks for this great performance on behalf of our community!
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17th Hochheim Vineyard Run -
Not only the sun shone during the run through the beautiful vineyards of Hochheim, but also the runners around the team of SphinCS had every reason happy and jubilant to cross the the finish line. They completed a great run, for our Niemann-Pick community and raised awareness for the disease.
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Jungfrau Marathon
(Report of Kerstin Blank - ASMD member)
JUNGFRAU MARATHON: A word as powerful as the mountain itself. 42.4 kilometers. 2100 meters of altitude. A challenge that even I, as an experienced jogger, more than respect. At the same time, this run in particular is a long-cherished wish. Without the encouragement and support of friends, I would never have signed up for this marathon. Similar to the Niemann-Pick support group, where encouragement and support help climb mountains of a very different kind.
Two days earlier I had arrived in Switzerland and had tried to acclimatize by hiking at altitude. The training phase at home had not been quite what it should have been. I felt that I was not really well prepared.
At the start I was greeted by a great atmosphere and people from all over the world. More than 3000 runners from 65 nations, but they have to start in groups today. Corona conditioned.
Equipped with magnesium, glucose and the cell phone for nice photos I start. Rain jacket, cap and gloves in the luggage. At an altitude of 2000 meters it can change quickly.
The tension of the days before is now blown away. The first 25 kilometers of "flatland" are quite easy for me and I am accordingly fast. This gives me a time buffer, which is helpful later on during the climb, since I have to keep to certain time limits at two passages.
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Felt and also practically it goes the last kilometers only the mountain up. Somewhere the 2100 meters of altitude have to come from. I had not imagined it to be so strenuous. Since only fast walking is possible for me. Only the professionals are here still really zackig on the way.
The good organization, 1700 helpers along the course, an amazing audience that cheers you on by name, help me with the climb. The last three kilometers have it in itself. Stones and boulders but the finish is within reach. At Km 40 bagpipe players, at Km 41 real Swiss chocolate for the last meters. I am so euphoric; that I no longer notice anything of the torment and with the thoughts of our self-help group that one must never give up, I fought my way over the last rocks to the finish. Applause, music and a lot of emotions, I am just proud and happy. A moment I will never forget!
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Italian Niemann-Pick Association
“May the Force be with us!” 3rd International Niemann-Pick Day
The 19th October is just around the corner: conceived by the International Niemann-Pick Disease Alliance (INPDA), the initiative aims to raise awareness among doctors and public opinion on the disease and its various forms to arrive at the diagnosis in ever faster times.
"The month of October" says Alberto Lionello, President of the Associazione Italiana Niemann-Pick "was already dedicated to us, but this day gives us the opportunity to focus even more on this disease and on the issue of rare diseases. The celebrations for this year's Day will see our families as protagonists who are the focus of the Association's activities and who experience many difficulties every day, still unknown to many". "May the force be with us!" is the title of the campaign that will kick off on October 19, 2021 with a video that will transport the listener into the daily life of a family with a rare patient affected by Niemann-Pick.
The clear reference to the famous quote from the Star Wars film saga refers to the concept of Force as a message of hope: Force is here understood as an energy that unites all living beings and is synonymous with resistance. Think of the resistance of these families who are faced first with the diagnosis and then the cure of this terrible disease that afflicts a loved one. In various Star Wars video games, the Force is represented by a bar that indicates the quantity available to each character: it gradually empties as it is used (it cannot be used when the bar is empty) and it is necessary some time to get back to recharge. Reversing the concept on our families, the strength bar is their resilience which must gradually be recharged: this is where the Association comes into play.
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“The video - continues Lionello - will be disseminated through our social channels, on our website and promoted through the publication of articles in some specialized magazines. The campaign "If you talk about it is not rare", promoted by Sanofi, under the patronage of Uniamo and in collaboration with Parole O_stili, also fits into this framework.
"If you talk about it is not rare", is a project that invites you to reflect on the power of the word: only by promoting greater knowledge of these conditions and 'normalizing' the lexicon related to rare diseases will it really be possible to break down the too many social barriers that still exist. For the month of October, therefore, two cards will be disclosed on the web that will invite people to reflect and increase their knowledge on Niemann-Pick disease, still unknown to many.
"In Italy we are the only reference for this disease; However, I would like to underline that we are also the contact persons for rare diseases for Piedmont and Valle d'Aosta: we coordinate the A-Rare Forum, a group of rare disease associations that collaborates with the Interregional Coordination Center of the S. Giovanni Bosco Hospital of Turin where we manage a listening desk dedicated to all rare patients. The audience to which we address - concludes Lionello - is therefore very large ".
Niemann-Pick disease (A, B, C) is a rare genetic neuro-degenerative disease, which creates serious inconvenience to patients who often need 24-hour care. It involves symptoms such as hepatosplenomegaly, movement and swallowing disorders, organic psychosis, dysarthria. The diagnosis is complicated by the non-specificity of the symptoms, the fact that it strikes at any age and that, moreover, the manifestations change from patient to patient. In Italy, the International Day is promoted by the AINP – Associazione Italiana Niemann-Pick, which was founded in 2005 to promote systematic information on all aspects of these rare genetic diseases and to encourage comparison and support between the families of patients affected by this rare disabling disease. All initiatives will continue in the following months until 2022, in order to continue to keep the attention on this disease and reach as many people as possible.
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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 Foundation
of Spain
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Hi everyone!
How are you? We hope that all of you have been to enjoy the summer holidays with your families and friends, according to the restrictions of each place. We hope that this time of disconnection has been fruitful for all of you, and we hope that we begin the new course with all the batteries charged for everything that comes in relation to the Niemann-Pick community.
In Spain, the Niemann-Pick Foundation has already started her normal activity since the beginning of September. And that is why we want to inform you and make you participate about the activities that we have done the recent months since the last newsletter and, at the same time, inform you of our objectives for this last four-month period of the year, which also serves to conclude those projects and goals that we set for ourselves in that already distant January 2021.
As you know, our Foundation works to fulfill its three foundational goals, which are research, divulgation, and family attention. We always put our efforts to achieve progress in these three goals, and we consider that they are the basic structure to walk in the right direction.
Research: The Niemann-Pick Foundation of Spain, using to its “Juan Girón” research grant, will fully finance, as you all know, a clinical trial with Efavirenz. This trial is the result of years of research, and we hope it can begin as soon as possible. It was scheduled to start in 2021, but the complicated situation caused by the COVID19 pandemic, which continues to affect our country very dramatically, has not made possible that the first phase of the trial begins. We hope that in the next newsletter we will be able to give you the news everyone is waiting for, and the clinical trial has been able to begin.
Family Attention: Being close to families and showing them our continued support is essential for the Niemann-Pick Foundation team in Spain. For this reason, we periodically organize meetings that allow direct contact between affected families, where they share their concerns, so that they continue to feel accompanied on this trip called Niemann-Pick. Unfortunately, this 2021 we could not meet in person due to COVID19, but that is not why we are going to stop creating that intra-family connection. Therefore, Saturday, October 2nd, we held a virtual meeting of families of the Foundation. In it, we shared objectives, projects, experiences... and tried to make the family union that characterizes our entity even more strengthened after this year and a half of pandemic in which we have had almost no opportunity to see each other in person.
In addition to this virtual family reunion, we have continued to promote our family assistance program, which we believe is essential to support those affected and their families in these difficult times. We are all suffering the consequences of the pandemic, but those affected by a rare disease suffer them in a more severe way, and it is our obligation to try to ensure that, as far as possible, their lives are affected as little as possible by COVID19.
In addition, some newly diagnosed families both in Spain and in other countries have contacted us to request information and family advice. We have attended to them personally or we have directed them to the organization closest to their place of origin. We believe that working together and being connected to each other, thanks in large part to INPDA, allows anyone affected from any part of the world to be counseled by a Niemann-Pick patient organization.
Divulgation: This goal takes on a special importance in this four-month period because October is the month of awareness of Niemann-Pick disease. An international event that makes us globally visible and raise awareness about the Niemann-Pick in the world. October 19th is the day that we have marked on the calendar as the commemorative day, but throughout the month we will carry out various actions on social networks and on our website that allow us to reach as many people as possible and get them to get involved in our cause.
It’s a pleasure for us, to invite you to visit our website and play the video that we make for Efavirenz Campaign. A part from this, we also made a new corporative video. We will send you soon. But not only that: this year on October 16th, we celebrated the traditional “La Nocturna de Toledo” race. It is a race where more than 4,000 runners are expected to participate in the city of Toledo. Every year, the benefits go to the Niemann-Pick Foundation, and we attend families and members of the entity to show them our support and our gratitude after so many years.
We also want to make you participate in a solidarity event that took place in Tarragona in July: the Starraco. Hundreds of people held at the Palau Firal i de Congressos de Tarragona, dressed as their favorite fictional characters, from Star Wars to Harry Potter, including Ghostbusters. It was quite a show. The benefit of the tickets was distributed among different charities, and one of these was our Foundation. From here, as we have done personally and on social networks, we want to show you our gratitude for collaborating with our cause. We hope to see you again next year.
In addition, we also participated in the INDPA’s meeting that was held the last weekend of July. We found it very interesting, and we drew very positive conclusions from the presentations. The experience was very satisfying. Hopefully the next meetings can be, finally, face-to-face.
Finally, we want to inform you that this year, after reaching a consensus with the doctors of the Foundation's medical committee, we are not going to hold our Annual Congress in November as it was traditional, but we are going to postpone it to February 2022. We believe that February is a month with a special meaning for us: February 17th is National Niemann-Pick Day in Spain, and February 28th is World Rare Disease Day. We have thought that doing it around this time will give an even greater symbolism to our scientific-family encounter. We hope, if circumstances allow, that it can be in person.
We look forward to reading the news from the rest of the entities and organizations that are part of the INPDA to keep up to date with what is happening in the Niemann-Pick community.
From Spain we remain at your disposal to work on everything that is necessary and to continue strengthening our community, which has a very favorable impact on all our affected people. We will read each other in the next one!
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The Pfrieger’s digest reflects the difficult situation where NP-C patients are in. Felix Schleuniger continues to promote NPC awareness by wearing his "Think Again - Think NP-C" gear in the many races he participates in. The latest race was the Grinduro race, an international mountain bike event taking place this year in our Swiss village.
Christoph Poincilit
President of NPSuisse
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This year has been such a special one for us at NPUK as we celebrated our 30th birthday, and so despite the ongoing challenges and limitations we face in light of COVID-19… we have spent a lot of time going over so many special memories! Our small charity has come and, more so, how many people have contributed so much towards the success of the organization over the years. The NPUK of 1991 was certainly very different from the NPUK that we know today, which was just ten families affected by Niemann-Pick diseases (types A, B & C) getting together at a satellite seminar on NPD at the RTMDC conference. |
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This is difficult to imagine today with our connected and close community not just in the UK but globally through the INPDA, but this was the first time that any of these families had met another family affected by the condition. It was decided in that momentous moment that we are stronger together, whether this is raising awareness, supporting one another, or rallying for change... sentiments which have stood the test of time ever since, and still forms the centre of the work we do today. Now as we look at all of the international groups and inspiring advocates from around the world, we feel proud to be part of this group and are hopeful of the future. |
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We are continuing to develop our next short film project, “Invisible Manners”, alongside both NPUK and INPDA families. This project will feature animation, voice overs from both community members and well-known actors including Billy Boyd (The Lord of the Rings), Weruche Opia (I May Destroy You), and Isy Suttie (Peep Show), and a narrative inspired by family’s stories with regards to invisible conditions and public perception. Slowly but surely we are getting there, and progress has been positive so far…we remain hopeful we will be able to release the film in November/December 2021. Please check out npuk.org and our Facebook page @NiemannPickUK for further details.
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As we begin to open up again we are able to hold on to some of the positive elements gained during this process such as the new innovative means of digital communication and increased input from our community, whilst also slowly and carefully returning to in-person meetings, clinic days, family fun days, and more. On the 16th October we will be holding a “Reunion Lunch” with patients, families, and friends…we are hopeful this will be a fun day, and the first of many…we will be sure to take lots of pictures to share! |
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National Niemann-Pick
Disease Foundation
This summer, NNPDF hosted its annual Family Support & Medical Conference as a virtual gathering of over 300 diagnosed individuals, family members, clinicians, and researchers. Our first-class lineup of speakers highlighted topics of most importance to our community including the value of patient advocacy, and our small-group events and breakout sessions provided the face-to-face connections and conversations that our families wanted. Recordings of our conference sessions are available.
Our family services programs are consistently available, providing a compassionate connection for families at all stages of the Niemann-Pick journey. Our focus on bringing approved treatments to our families is strong - we have held 2 Listening Sessions with the FDA over the past few months and communicate the patient voice at the highest levels. We are working to make newborn screening of Niemann Pick a reality by preparing an application to add ASMD to the Recommended Uniform Screening Panel (RUSP)and through our work on the NPC newborn screening Working Group.
We are providing resources and education to our families including recent webinars from Cyclo Therapeutics and AllStripes in our Community Update Webinar Series. We are helping families access available experiment treatments including olipudase alfa’s managed access program in the US as well as assisting families find resources to all of the current NPC clinical trials and expanded access programs. And we are ensuring that our legacy families remain connected to our community and know that contributions are meaningful and valued.
We are a gathering space for our community members, and we are uniting families. We are looking for a future cure through our research efforts and fighting for approvals now through our advocacy efforts while supporting families in the day to day with our family services programs.
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The Wylder Nation Foundation
Wylder Nation Foundation continues working towards our primary objective of improving the lives of those living with ASMD by accelerating the discovery and development of treatment options. To that end, below are a few of our current ongoing research and awareness projects.
- Extended a year of funding for a Post-Doctoral Fellow in the Lab of Dr. Maria Dolores (Lola) Ledesma through September 2022
- Continuing additional research surrounding the use of different FAAH inhibitors in ASMD, and engaging in discussions with potential partners to help advance this program
- Discovery and exploration of potential biomarkers in CSF and plasma of ASMKO mice that could be of clinical relevance
- Started planning for the production of ASMD awareness videos to provide a look into what it’s like living and caring for children with early onset neurovisceral ASMD.
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Continuing enrollment in our ASMD Accelerate* study in collaboration with Picnic Health. This study aims at utilizing medical records to gather real-world evidence (RWE) on the natural history and progression of both the acute and chronic neurovisceral forms of ASMD. *If you or your child have been diagnosed with acute or chronic neurovisceral ASMD (NPA or NPA/B), please visit picnichealth.com/asmd-wylder-nation to learn more about this study and how you can easily participate in this important research.
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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:
We are pleased to announce that we have expanded the team at Cyclo Therapeutics to include our new Chief Medical Officer, Lise Lund Kjems, MD, PhD. Among her many responsibilities, Lise will be focused on our late-stage clinical program... READ MORE
IntraBio Inc.:
IntraBio is continuing the development of its lead drug candidate N-acetyl-L-leucine (IB1001) for the treatment of Niemann-Pick disease type C (NPC). IB1001 is an orally administered (sachet) that has been demonstrated to be safe, well-tolerated, and effective for the... READ MORE
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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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