Rare Disease Day

In recognition of Rare Disease Day, the International Niemann-Pick Disease Alliance would like to take a moment to say…

Thank you!

Niemann-Pick Disease (NPD) is more than just rare; it’s actually classified as ultra rare. With less than 3000 diagnosed patients worldwide, patients and families facing this disease understand all too well how hard it is to get recognition.  

However, thanks to the commitment and investment of researchers and endless work of NPD families and organizations around the world, we are moving the dial forward. NPD is now being discussed beyond our kitchen tables and doctors’ appointments, and is gaining recognition among those in medical and scientific fields studying lysosome diseases. 

Thanks to the perseverance of many , NPD is researched in countless labs and institutions across the world. Information is being shared in methods beyond that which was thought possible and progress is being made to help close the gap between the reality of diagnosis and the hope of promising treatments. 

Together, INPDA members are grateful to all who have believed in our mission to relieve sickness and distress amongst families affected by NPD worldwide, through the provision of mutual support, development of information, and stimulation of relevant research. 

NEWS FROM ARGENTINA | npcargentina.wixsite.com/npargentina

Niemann-Pick Argentina

Due to the presidential elections and the institutional changes that took place in our country, in recent months our task focused on campaigning in the public administration and in the political decision sectors. We form and integrate the Argentine Patients Alliance (ALAPA), formed by more than 70 organizations and patient groups, we actively participate in conferences and Disability Days, Social Forums and Access to Medication, We participate in the National Health Meeting and we are actively working on the visibility of patient rights, in these last 2 months we had very important achievements and now facing the Day of rare diseases we are preparing a great campaign, in the next newsletter the photos will go.

NEWS FROM AUSTRALIA | npcd.org.au

Australian NPC Disease Foundation

We will be releasing our annual family conference details and ticketing on rare disease day. 1.5 days of family conference on 9th and 10th October with expert presentations followed by our biggest fundraiser gala event being held at Melbourne’s renown Flemington race course on the 10th October 2020. Last year this event alone raised approximately $75000 AUD for research.

We’re all safe from fires - all our families are safe in Australian and haven’t been personally affected by the terrible fires and we are all so thankful for the kind wishes and prayers we’ve all received during this disaster. At present the fires seem to be under control, although we still have some smoke haze and some poor air quality days but our wonderful firemen from all around are remaining on top of things and are Australia true heroes.

NEWS FROM BRAZIL | niemannpickbrasil.org.br

Niemann-Pick & Batten

Brazil Association

ANPB Agenda for the International Rare Disease Day in 2020: 

NEWS FROM BRAZIL

Niemann-Pick BR-S

In the last 6 months we participated in the 6th Biennal Face to Face Meeting in Lyon, France and the 26th Family Conference in UK -2019. We had some events with delivery of folders at UFRGS (Federal University of Rio Grande do Sul) and explanations about Niemann-Pick disease. A Master's project on the oral, dental and craniofacial characteristics of patients with ASMD has been completed with excellent results. We just got back from WORLD Symposium 2020 in the USA where we had access to the latest research results that are in progress. For February 29, we are scheduling a public event to disseminate knowledge about the disease and the focus for 2020 is to disseminate the results of the project on craniofacial characteristics worldwide and continue to fight for more patients to have access to enzyme replacement therapy in the Brazil. For February 29, we are scheduling a public event to disseminate knowledge about the disease and the focus for 2020 is to disseminate the results of the project on craniofacial characteristics worldwide and continue to fight for more patients to have access to enzyme replacement therapy in the Brazil. We follow ERT and the patients closer.

Now, this February, we completed 5 years. Since 2015, our target has changed a little. Nowadays we focus in scientific vision to change NPD patients lives and show an importance of knowledge about lysosomal diseases to physicians and healthy professionals.

Through Isadora's treatment we try to encourage families to keep faith going. We know that it wouldn’t be easy to allow medicines to all patients in the world and especially in Brazil.

But is our mission try to make this dream come true as soon as possible to help Brazil's involvement with the INPDR as well. It will be a huge step that will bring hope and knowledge to Brazilians NP. 

NEWS FROM CANADA | niemann-pick.ca

Niemann-Pick Canada

Through the amazing work of the volunteers of Niemann-Pick Canada we have been able to continue to raise funds to support research that will progress our understanding of Niemann-Pick Disease and help identify strategies and targets for treatment and eventually a cure. NP Canada has funded 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. These projects have added greatly to our understanding of the Niemann-Pick Type C and potential future targets for treatment. 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.

NEWS FROM FRANCE | niemannpick-france.org

Association France

Niemann Pick

It is with great pleasure that we share, with the entire Niemann-Pick community and the general public, our activity in preparation for the February 29, 2020 World Rare Disease Day. Our first step was to modernize and expand our website in its sections and news to try to arrive more simply at the general public with the problems of Niemann Pick disease, as well as the updates concerning the Progress of research on this subject and also on the Facebook page.

We participated in the day of screening for new hereditary diseases of metabolism in the G2M sector on February 4, 2020 to IMAGINE Institute in Paris. We also participated at the General Assembly of the G2M sector, where we collaborated in expert groups formed by the G2M sector at the request of the French government on February 7, 2020 at the IMAGINE Institute in Paris.

For the World Rare Disease Day, we are collaborating with the GM2 sector, the town hall of Lille and the CHU of Lille, to carry out the Village of Rare Diseases which will take place on February 29, 2020 from 2 p.m. at the Saint Sauveur station in Lille, and at the Conference "Rare diseases at school or at work, integrating despite the difficulties" which will take place on February 28, 2020 in the cinema hall of Saint Sauver station in Lille.

From March 6 to 8, 2020, our members will join the European task force on Brain and neurodegenerative lysosomal storage diseases of brain for the brain foundation which will take place in Frankfort.

From March 17 to 19 we will attend the DIA EUROPE 2020 in Brussels. DIA Europe 2020 is Europe's largest and most forward-looking neutral healthcare conference. This annual event spans DIA's strategic initiatives across a range of Thought Leadership streams - Clinical Development & Operations, Regulatory Science & Operations, Value and Access, Medical Affairs and many more.

In early June 2020 we have planned an information day on Niemann Pick disease and on the development of research which will take place in Paris for the occasion an evening of conviviality with meals and lottery will be organized to collect donations for the research.

From May 14 to 16, 2020 we will participate in the European conference on rare diseases & Orphan products which will take place in Stockolm.

We are also working on information publications on Niemann Pick diseases to be sent to the general public and on the Niemann Pick Patient Passport, which will be completed for the gala day in June.

We are looking forward to partnering with the INPDA awareness campaigns and looking into next steps needed for roll out of the INPDR in France, and progress together.

Nothing is impossible, all together we go far away!

NEWS FROM GERMANY | niemann-pick.de

Niemann-Pick Selbthilfegruppe

The annual member newspaper called "Chameleon" was published in the end of 2019.

The newspaper surprised with a completely new layout and contents. The chameleon is a symbol for Niemann-Pick. A few years ago a German doctor made the comparison of Niemann-Pick disease with this animal. Why? Because this animal is having a highly variable living conditions, changing their colour as quickly and diversely as Niemann-Pick`s symptoms. Some chameleon species are difficult to identify, they have become rare and are threatened with extinction. 

 

Our annual family conference will take place on the 25th and 26th of April 2020 at Pentahotel Kassel - Wilhelmshöhe. This year is the first time with temporary breakout sessions for ASMD and Niemann-Pick Type C.  

NEWS FROM SPAIN | anpf.es

Niemann-Pick Association of Fuenlabrada

After taking part in the first edition of the International Niemann-Pick Disease Alliance Newsletter, we are happy to share with all of you the events we have been carrying on these last months.

In November, there were three important events that should be highlighted; first, two little boys, called Hugo and Martín, celebrated their birthdays, and all they wanted was that people donated money to fight against NPC disease. Moreover, we also performed our Disney Musical this month, which is a very special event that is carried on by all the people involved in the association; this Musical aims to join everybody who is close to the disease and raise money for the investigation, and all the tickets were sold out. ANPF also got a donation from ‘La Caixa’ in Guadalajara to continue researching.

In December, ANPF had the idea of making personalized key rings so that they could be a perfect present on Christmas days. This month was very successful in terms of the lottery; it was sold out, people from all around Spain bought the number and we received a lot of illusion from all places. All the money raised was dedicated to the investigation of NPC disease.

In January, we took part of the ‘Three Wise Men’ parade, as we were all disguised with candy dresses that made everybody watching the parade enjoy with us. In Marchamalo, Guadalajara, a charity street market was carried out and there were a lot of activities for the assistants to enjoy while they donated and learnt about this disease. Moreover, Emilio Mínguez imparted a self-defense seminary dedicated to the little ones in Guadalajara, and all the benefit went to ANPF. This month, NEOVIA Company also participated in the contribution for the investigation and they made a Christmas breakfast, which was a generous mark.

Finally, we want to share with you what we plan to do from Rare Disease Day; this day, we are carrying out a theatre play called ‘Buscando a Oz’, which means ‘looking for Oz’. The play is an adaptation of the famous film ‘The Wizard of Oz’, in which all the actors show to the public the story of Dorothy and her dog that has Niemann-Pick type C disease. Then, Dorothy is taken to the magical world of Oz and, there, she will look for the Wizard of Oz to find a cure to her little dog. Throughout this story, written and performed by not professional people but people belonging to the affected families, everyone watching the play perfectly understands this disease and everything that it involves.

NEWS FROM SPAIN | fnp.es

Niemann-Pick Foundation

of Spain

FNP-Spain held their annual Scientific-Family Conference in October 2019 in Segovia (central Spain). The meeting was extremely informative and provided both family support and the latest updates in the NP world. We had the honour to receive John-Lee Taggart, as an INPDA representative, and Louise Metcalfe from NPUK. This contributed to strengthen bonds within our community and to raise awareness about the disease and about the importance of working together within the framework of the INPDA in order to achieve our common goals.

Apart from that, FNP has organised multiple fundraising events. Now more than ever any contribution, no matter how small it may seem, is paramount as FNP has decided to fund a clinical trial with Efavirenz for NPC. A study funded by Fundación Niemann-Pick de España and conducted in Dr. María Dolores Ledesma’s laboratory (Centro Biología Molecular Severo Ochoa, Madrid) revealed the efficacy of this drug (Efavirenz) to treat cognitive and psychiatric problems in the NPC mouse model. Efavirez, which is already used in clinical practice as treatment for AIDs, is a powerful activator of the enzyme Cyp46 which modifies cholesterol facilitating its elimination in the neurons. In NPC mice, the oral treatment with this drug, at a dosage 300 times lower than that used for AIDs patients, reduces the accumulation of cholesterol in the brain. It also prevents memory failure and psychiatric alterations and it increases life expectancy. These results in the NPC mouse model have been published in the scientific magazine EMBO Reports (Mitroi et al., 2019, 20:e48143) and are the foundations to carry out a clinical trial with patients of this disease.

In the University Hospital of Bellvitge, Drs. Jordi Gascón and Sebastià Videla, in collaboration with Dr. Ledesma, have designed a clinical trial to determine the efficacy of Efavirenz in adult NPC patients. The trial protocol, which will analyze the neurological progression of the disease for a year with daily oral treatment with Efavirenz, has already been approved by the Spanish Health Ministry. Recruitment is due to start in the next few months. Fundación Niemann-Pick España is making huge efforts to fund this trial, hoping that it will bring a positive outcome improving NPC patients’ quality of life worldwide.

NEWS FROM SWITZERLAND | npsuisse.ch

NP Suisse

On March 7th NPSuisse will have its General Assembly. After the assembly a Round Table will take place. Topic: Care of NP-C patients at home or in an asylum today and tomorrow.

NP-C patients are getting older and care givers as well!

NEWS FROM THE UNITED KINGDOM | theholliefoundation.com

The Hollie Foundation

In 2019 The Hollie Foundation issued grants to affected individuals and NPUK totalling just under £17,000. This would not have been possible without the support of our fabulous fundraisers and the hard work of our volunteers. We look forward to another year of fundraising activities in 2020 including our annual skydive event, summer fetes and party evening. Our grant funding programme helps support families with funding for such things as specialist equipment and adaptions. We continue to provide NPUK with the part funding for the Senior Family Advocate.   

NEWS FROM THE UNITED KINGDOM | npuk.org

Niemann-Pick UK

From Toni Mathieson, Chief Executive

If you listen to people’s New Year’s resolutions this year, you’d likely hear many mentioning a little something called “self care”. This is vital for everyone, but especially for those in our shared Niemann-Pick family due to the stress and strain that can accompany daily life, along with associated negative feelings and cycles of behaviour – this can have a huge impact. With this in mind we are planning the “NPUK: Self Care Campaign” in February; every single day building up to Rare Disease Day 2020 we will be posting helpful tips, advice, vlogs, and much, much more.  The aim is to give our community members the tools to enable a greater sense of inner peace and resilience in their day-to-day lives. As ever we invite our friends in the INPDA to interact via our Facebook page, and we hope this extends across the whole community!

 

We are also pleased to announce that the date and location of our flagship event, the Annual Family Conference & Interactive Workshop on Niemann-Pick Diseases, has been confirmed. We will be hosting the Conference at Wyboston Lakes, Bedfordshire once again, over the weekend of 25th-27th September 2020. In recent years the event has grown to be the largest dedicated Niemann-Pick meeting in the whole of the Europe, something we are very proud of. We will provide booking information in the coming months, so watch out for updates across our social media pages, including Facebook @NiemannPickUK and make sure you follow us if you don’t already!

From John Lee Taggart, Social Media and Communications Officer

We are happy to report that our latest short film,  Go Make Memories , is attracting a lot of positive attention in the festival circuit, we have been nominated for many awards including one at the largest charity film festival in the UK, the Charity Film Awards (April 2020). We want to say a huge thank you to all involved with the film’s development and also to the INPDA community at large for sharing the film with their network – this has been massive for awareness and long may it continue.

 

You may have spotted our “Self Care Campaign” this month which hoped to offer something a little different for the NPUK community, and by proxy the wider global community of the INPDA. The campaign was intended to give insights into how our community members, many of whom are busy parents and carers to children and adults with additional needs, can learn to take time for themselves. We included ways in which to reduce stress, feel more positive, and steps to take to live a healthier life! After all, you can’t be expected to take care of others if you don’t take care of yourself! 

 

We are pleased to announce that we’ll have NPUK/INPDA representatives at two of the largest Rare Disease Day gatherings in the UK this year at both the Westminster Reception (House of Commons) on the 26th February and the Holyrood Reception (Edinburgh) on the 4th of March respectively – these meetings are a fantastic opportunity to not only increase awareness for Niemann-Pick disease but also to see how other organisations are adding value to their communities!”

NEWS FROM THE UNITED STATES | nnpdf.org

National Niemann-Pick

Disease Foundation

This winter, NNPDF’s Family Services department launched a new initiative to deliver NNPDF CARES bags (Caring, Assistance, Resources, Encouragement & Support) to Niemann-Pick families beginning therapeutic experiences in the U.S. The bag contains small items to make the burden of living with and caring for Niemann-Pick Disease patients a little easier during their clinic visits. It is also a way to connect families to NNPDF early in their treatment experience and better enable them to find our resources and family supports. NNPDF CARES bags will be available at clinic sites in Chicago (IL), New York (NY), Oakland (CA), Rochester (MN), and Washington DC.

We promoted awareness of Niemann-Pick Disease throughout the month of February through a social media campaign of daily facts and update as well as through events in our communities. We are appreciative of our industry partners’ recognition of Niemann-Pick this month as well. NNPDF took part in Niemann-Pick educational events for Rare Disease Day at Sanofi Genzyme and also at StrideBio .

With advocacy central to our mission, NNPDF provided four Advocacy Stipends for Rare Disease Week on Capitol Hill. These stipends assisted four Niemann-Pick individuals or caregivers to attend Rare Disease Week events taking place in Washington DC dedicated to empowering patients, families, friends, and healthcare professionals to become legislative advocates. Updates from these experiences will be published in the March 2020 NNPDF Newsletter.

This February we launched the 2020 NNPDF Community Update Webinar Series, a series designed to provide hour-long updates on issues impacting U.S. Niemann-Pick Disease families, including clinical updates and educational updates on issues relevant to the community. The series premiered featuring Orphazyme and dates have already been set for updates from Cyclo Therapeutics, Mallinckrodt Pharmaceuticals, Sanofi Genzyme, and an update on newborn screening and the “ScreenPlus” pilot program.

Join us LIVE when possible to see the full webinar—the Question & Answer discussion can only be seen at the live presentation. All webinars in this series will be posted online following the event for viewing at any time throughout the year. Registration is required in advance for each webinar .

Coming up July 9-12th, NNPDF will hold its annual Family Support & Medical Conference in San Antonio, Texas. Our conference is a unique combination of clinical updates and family support sessions with a special atmosphere fostering collaboration and togetherness. This year we will also hold a Family Fun Day on July 12th at Morgan’s Wonderland, an ultra-accessible theme park.

NEWS FROM THE UNITED STATES | wyldernation.org

The Wylder Nation Foundation

Wylder Nation Foundation held it’s 6th Annual Living Like a Warrior Gala this past November in Scottsdale, Arizona. This event continues to be an instrumental part of our fundraising efforts as we raised just over $125,000 (net) for our ongoing research programs.

On the research front, we continue to explore different avenues to treat the neurological manifestations of ASMD. This includes the use of molecules that inhibit Fatty Acid Amide Hydrolase, amongst others to rescue a system we discovered is severely down-regulated in ASM Deficient patients and animal models, and is the subject of an international patent we filed last year. 

Additionally, we are in the early stages of another study aimed at discovering biomarkers in the CSF of ASM Deficient mice that may also correlate with blood-based markers, with the ultimate goal of finding a way to monitor the neurologic progression of the disease in a fairly non-invasive way. We feel strongly that these potential biomarkers, as well as a few other surrogate endpoints are critical to moving our programs forward into the clinic.

Wyder Nation is blessed to be playing a small part in accelerating the discovery and development of treatment options for this horrible disease, and we remain laser focused on translating good science into effective treatments for this community.    

NEWS FROM THE INPDR | inpdr.org

The International Niemann-Pick Disease Registry

The INPDR is a global gateway to a lasting legacy.

If you haven’t been following the progress of the INPDR recently, now is the time to take notice. We have some very exciting plans for the coming year which will improve the quality and quantity of data held in the registry, as well as opportunities to collaborate with the Niemann-Pick Disease community and key stakeholders, including clinicians, researchers, regulators and industry.

The electronic data capture (EDC) system has been migrated to a new host, OpenApp Ltd, based in Ireland, which has included redeveloping the clinician reported database and patient reported database to be more user friendly, secure and insightful.

The work we are doing will make sure the INPDR supports the development of treatments, improved understanding and diagnosis and better quality of care – all through harnessing the power of patient data and experience.

The INPDR website has also been updated and you can now connect with us on Facebook @INPDR , Twitter @inpdr_tweets, and LinkedIn . We will also be attending several events this year, so we hope to link up with as many of you as possible.

As part of launching the new website and EDC system, we will be running a campaign to improve understanding of the INPDR, the short- and long-term benefits for the community and encourage more patients and their families to sign up and share their data either through the clinician reported database and/or the patient reported database.

If you have a website, newsletter or podcast we would love to contribute guest content so please get in touch with [email protected] or through the website and social media channels to make arrangements. Please also look out for opportunities to share updates with your followers and community.

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 [email protected] by June 1, 2020.

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