Message from the INPDA President
I said goodbye to 2020, a year that brought many challenges, with the hope that a new year would bring new opportunities and a return to a more normal life. Challenges are not something new to our community and throughout 2020 I was encouraged to see how our organizations and communities have risen above the new challenges and refused to allow them to deter us from our shared goals of raising awareness of Niemann-Pick Disease and striving towards a cure. The challenges of 2020 that could have made us more distant actually brought us together as we learned to adapt and use new platforms to sustain our connections and build new ones.
2021 has started and has brought its’ own set of challenges including the ongoing Covid 19 pandemic and other issues. It has led me to reflect that this year will have its own unique set of challenges, but despite these we will continue to work together to achieve our shared goal of progress in Niemann-Pick Disease. It highlights the need for us to continue to work on raising awareness of Niemann-Pick Disease. We need to continue to work to ensure that clinicians, researchers, drug development teams, regulators and funders understand this community and the complexity of living with such a rare disorder. We need to continue to strive to build understanding that in the case of a rare disease such as Niemann-Pick Disease with variable clinical presentations, small patient populations and when success of a treatment may not be easily measurable by typical markers of treatment success that new approaches and outcome measures may be needed. We have worked hard to build a global community for Niemann-Pick Disease to serve as a voice for this community and we need to continue to strengthen this voice.
The recent announcement of the suspension of Mallinckrodt’s development program for Adrabetadex has been extremely disappointing for all involved. The INPDA and the member organizations continue to advocate for the community, explore options moving forward, and work together to ensure the valuable data gathered from these trials to date is maintained and accessible to support future research and development.
Despite these challenges we are still, as a community, moving forward in a positive direction. There are treatments that have completed clinical trial and are in the process of either being evaluated by regulatory authorities or being prepared for submission for both Niemann-Pick type C (Arimoclomol) and ASMD (Niemann-Pick Disease type B) (Olipudase Alfa). Clinical trials are ongoing for Trappsol Cyclodextrin. Other agents are in development phases and ongoing research is happening for other potential therapeutics. We are continuing to build awareness and strengthening our global community
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We will be meeting for our Biennial INPDA Face to Face meeting July 31 - August 2, 2021. Although the format of this meeting has changed to a virtual event this remains an important opportunity for us to review what we have accomplished and our goals for the future. Please ensure you have these dates set aside in your calendar.
This newsletter is being published on February 28, 2021, Rare Disease Day. I have had the great privilege of working with such a wonderful community. You have made a significant impact over the years on the Niemann-Pick Disease community. Thank you for all that you do. I look forward to working with all of you through this year, please continue to share your successes and learnings. We are much stronger together.
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Niemann-Pick Argentina
Hello friends, from Argentina we reported the news of the last months of 2020, which left at once.
During October we carry out the month of awareness and the world day of the disease. This year we are 15 years old and the pandemic forced us to carry out a purely digital campaign. We conduct Zoom masterclasses with our main referring physicians and interviews with families with NPC and ASMD. We added radio interviews and on October 19 (which is also Breast Cancer Day, we partner with oncology organizations to expand dissemination. We also inaugurated a new web domain np-argentina.org and the Youtube channel called npc argentina.
All this work paid off in numbers, since numerous professionals got in touch, 15 possible cases were studied and 5 families who were not in contact with us wrote to us. Unfortunately we have the first adult patient with COVID 19, he is doing well, but he is being closely followed and studied especially to interpret the effect of the virus in patients with NPC.
We move forward in a still uncertain 2021, but with the intact hope of continuing with our goals.
A big hug to our entire community and I hope to meet again soon.
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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Fundraising
- Merchandise now available for delivery internationally, launched kids range
- Charity TV Global - www.AdventureAllStars.tv
- Gala still going ahead; tickets to go on sale in February 2021.
- Launched new downloadable resources for local fundraisers
- Launched new donation boxes
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Awareness/education
- Launched our NPC patient diaries
- Conference still going ahead on June 25, 2021; more updates to come in February 2021.
- Plans to work closer with the ‘Childhood Dementia Initiative’ – a new umbrella nonprofit organization focused on rare diseases that include fatal neurological symptoms affecting children (including Niemann-Pick).
Research
- Gene Therapy research still on track
- Noah has been entered into a program called Rare Disease Now (RDNow): Genomic Diagnoses and Personalized Care for Children with Undiagnosed Rare Diseases to test new genomic testing technologies allowing doctors and scientists to test many genes at once. Targeting increased speed and accuracy of diagnosis of rare genetic diseases (including Niemann-Pick).
Rare Disease Month
- Dinner Dance fundraiser in VIC
- Social campaign similar to October’s awareness month
- Support our Charity TV Cast Members in their first of 10 months of fundraising
Sincerely,
Deanna Carpino, Vice President
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Niemann-Pick Canada
Niemann-Pick Canada had another successful end of year fundraising effort and is grateful for the support of loyal and dedicated donors that hope to see an end to Niemann-Pick Diseases. Overall, 2020 was a successful year of fundraising to support our current research grants outlined below and allow us an opportunity to explore other exciting research opportunities. Niemann-Pick Canada is made up of all small group of volunteers that have been impacted by Niemann-Pick Disease in some way and all the money raised will be committed to research progress.
Niemann-Pick Canada is proud to continue to support the following research grants:
- Dr. Ronald Cohn, The Hospital for Sick Children, Toronto Ontario, Using Genome Editing to Understand and Treat Niemann Pick Type C
- Dr. Mark Schultz, University of Michigan, Studying Protein Treatment Strategies for NPC
- Dr. Kevin Vaughan, University of Notre Dame, Direct Stimulation of StARD9as a Novel Therapeutic Strategy for Niemann Pick Type C
These labs have all been impacted by closures or working at limited capacity throughout the pandemic, however, remain dedicated to moving this science forward.
Happy New Year to all as we hope that 2021 allows us all to overcome this global pandemic with the availability of vaccines and the safety to connect face to face again soon.
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Niemann-Pick Selbthilfegruppe
We are pleased to share the following updates from Germany:
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The 3rd edition of Pfriegers' Digest is now available with translation arranged by NPSuisse.
- Discussions are ongoing on how to hold our annual meeting - either in June or in November depending on Corona development - either virtual or face to face.
- Compassionate use for Arimoclomol was approved by BfArM (Federal Institute for Drugs and Medical Devices).
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Italian Niemann-Pick Association
In collaboration with the INPDA - International Niemann Pick Disease Alliance - the awareness campaign "NPC: have you ever thought about it?" was launched. For more information and to view all the campaign material, visit the official website think-npc.com.
Support us by donating your 5 per thousand to our Association! Enter the tax code 92036170014 in the appropriate box of the tax return "Support for voluntary work and other non-profit organizations".
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Niemann-Pick Foundation
of Spain
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In the last months of 2020, at the Niemann-Pick Foundation of Spain we have continued working to give visibility to our disease and in the objectives that we had set for the last past of the year. Although it has been a difficult year for all of us, we have focused our efforts on working in the goal of divulgation and the goal of research.
Despite the restrictions imposed by the health situation, some events have been held to benefit the foundation. the proceeds of this events will be allocated, in full, to be able to finance the clinical trial with Efavirenz that we will start, if all goes well, this year.
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In November, two events were held with all the security measures: “the XIII Toledo Night Race” and “the Tarragona Solidarity Walk”. The Toledo Night Race is an event which is celebrated every year to benefit the Niemann-Pick Foundation of Spain and is organized by a neighborhood association. It was a virtual race and did not have a specific route, but all the runners enjoyed the illuminated streets of Toledo and doing their most passionate about: running. The volunteers who attended the event set up an information table with some papers explaining the disease and putting the foundation's solidarity masks on sale. It was a big success and from this newsletter we want to thank all the participants once again for their involvement and their dedication to carry out this year's edition of the race. |
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A part of that, the Tarragona solidarity walk was held on November 28 and 29. The walk was through the archaeological part of the city. The initiative was received by the residents of the city with a lot of enthusiasm, and the limit of 500 registrations was exhausted in a few hours. Participants could choose the time to do the walk on November 28 and 29, at the time they preferred. Many thanks to all the participants for collaborating with Niemann-Pick disease research.
In Tarragona, another solidarity event for the benefit of the foundation was on December 19 and 20: the half marathon + 10k "City of Tarragona". It was held in virtual mode. This 2020 has been the 29th edition. Thank you to all the runners for your support of Niemann-Pick disease research.
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But the most important event for us was the celebration of our XXI Annual International Family-Scientific Congress. This year, as in many other countries, we have celebrated it virtually with Zoom platform. For us it has been a pioneering experience because we have never done it this way. We were preparing the congress many weeks ago and, although we were not able to be in person with the doctors and families, we were happy to be connected and to be able to offer the families and all the participants the opportunity to remain informed and to know the news and advances in the disease and its studies and treatments.
We did two sessions, one in the morning and one in the afternoon. In the morning session we have the participation of doctors and researchers who are experts in Niemann-Pick disease, and in the afternoon session we have interesting workshops for families with different topics. For example, how face situations derived from the COVID-19 pandemic, or discovering the affective-effective model, or physiotherapy sessions at home. In the afternoon session we also had an update of the latest news from INPDA by the president of the Foundation, Cecilia Bertran. The Congress is the most important event of the foundation, and this year we had the goal of being able to celebrate it despite not being able to do it as in previous years. And we were happy with the result!
We want to take advantage of this newsletter to inform the Niemann-Pick community of the news about the clinical trial with Efavirenz that we are going to finance full complete from the foundation: although it was scheduled to start at the end of 2020, with the health crisis it will not has been possible to start it yet. Work is being done so that it can start in the middle of this year 2021, possibly before the summer. Research is one of our main goals, and we will work to start the trial as soon as possible.
Many greetings from the whole family of the Niemann-Pick Foundation of Spain and our best wishes for this year that has just begun. See you soon!
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Availability of future drugs for ultra-rare genetic disorders October 2020 was the "Awareness" month of Niemann-Pick type C disease. Many countries participated in this campaign. Will all these efforts lead to access to new medicines? In addition to this campaign, the following message has been specially compiled to raise awareness among policy makers in all countries about the problems of drug achievements for patients suffering from ultra- rare genetic disorders.
As our association deals with Niemann-Pick type C disease, I will refer to this disease, bearing in mind that a solution can only be found to all ultra-rare genetic disorders at an international level involving political and administrative authorities.
After years of waiting, thanks to research, several substances developed to improve the daily lives of NP-C patients are in the pipeline of researchers. If they prove to be supportive and safe, how can the most promising be brought to market?
Before any further consideration, it is important to remember that NP-C is not a disease in itself, but a genetic disorder. As a result, this disorder occurs at different stages of life with a variety of more or less pronounced symptoms. These symptoms are not static. As they develop, they reflect a rapid or less rapid but fatal deterioration in the patient's state of health. It is utopian to believe that a single drug can solve all problems. Patients with NP-C must be treated individually with multiple therapies under the supervision of specialized NP-C doctors.
An important improvement compared to the situation ten years ago is that NP-C can now be diagnosed at an early stage. The earlier treatment is started, the better. However, treatment does not mean the same medication or dosage for a patient. In addition, the aggressiveness of each NP-C mutation can be very different and requires an appropriate choice of medication. Metabolic monitoring is often not enough.
Any future specific drugs designed to halt the progression of NP-C symptoms under current regulations will be expensive, and the small number of patients will make them unattractive to future private sponsors. Health authorities are obviously not satisfied with the high price policy of pharmaceutical companies. The level of costs will not generally facilitate the distribution of drugs. However, the availability of NP-C medicines should not be limited to rich countries. The largest number of patients do not live there. Patients who are currently untreated are crucial for the choice of new treatments. As mentioned above, NP-C is not a disease, but a genetic disorder that will affect all future generations around the world. The return on investment of a development should not be a question of a few years as with a vaccine, but of decades. This aspect should be considered especially from the point of view of politics and the public economy.
However, the main problem is not the economy. In this extremely rare disorder the number of patients with NP-C suffering from the same symptoms at the same stage is so small that it becomes almost impossible to conduct a proper clinical trial for a particular substance. Under this conditions how do you build such a valid cohort and obtain an economical proof of efficacy for a new orphan drug?
Modern medicine is legally obliged to obtain guarantees from the authorities before prescribing a drug. A special case provided for in local legislation allows doctors to try off-label use of drugs already on the market. These drugs have been authorized because they are non-toxic and effective for other specific indications different from NP-C.
Why not take a similar approach for new or existing substances that are not yet on the market but are intended to help NP-C patients, who are certainly not able to form homogeneous clinical study cohorts? The monitoring of the health of these patients should be based on a marketing authorization that corresponds to the off-label use pattern, without the need for a drastic proof of efficacy. Some treatments take many months or years to show their benefits. See what happened with Miglustat. In some countries, it is only finally recognized after 10 years.
Of course, tolerability (non-toxicity) remains the basic rule. The conditions for qualifying a future drug would be different from the current rules for approving a clinical trial. Placebos would be completely eliminated. And in terms of long-term effects, the requirement should not be to improve health in terms of efficacy, but to slow down the rate of deterioration.
Patient associations fund many basic research projects, but their efforts are ineffective if no one is willing to take over development after the first positive results are obtained. Once toxicity has been ruled out, patients' families are prepared, if science suggests so, to accept the risk of ineffectiveness for a certain period of time and to demand that these new substances be made available under open testing conditions to be defined, with some of the costs being borne by public health authorities.
This will most likely entail a revision of the legal basis for international and local authorizations of medicines for ultra-rare genetic disorders, but it is currently practically the only way to advance medical progress in this area. The decisive factors for the future will no longer be clinical trials, but pre-clinical studies at international level combined with the analysis of the natural history of each patient over long periods of time.
INPDA has undertaken to participate in these efforts through its support of the International Niemann-Pick Disease Registry (INPDR), which will provide the Community, researchers and third parties with important information in the fight against NP-C and ASMD. It is an important tool created by a collaboration of patient groups and expert professionals. This investment makes sense as it will lead to improved development of future treatments.
If you support this document, please feel free to pass it on. The voice of every citizen is important. Politicians, especially those who do not have ultra-rare disorder patients in their families, should take note of this statement.
Thank you for reading this message. Without a political gesture, the improvement of the lives of our patients and all future patients with ultra-rare disorder will be limited. NPSuisse is a small association, but the number of rare disease patients worldwide is large. We hope to receive the support of RDI, Rare Disease International, for the adaptation of future rules for the marketing of new drugs.
Christoph Poincilit
President of NPSuisse
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Although 2020 was unexpected and at times tough for Niemann Pick UK and the families within our community, we are proud of the resilience of our group and the supportive network that continued to flourish during these strange times. The NPUK community continues to keep in touch virtually via Zoom sessions, such as our Time to Talk video calls, which are a weekly check in with members of our community and NPUK staff.
We continue to have wonderful news for our latest short film Go Make Memories. We recently won Best Animation Award at the Festival Uno Sguardo Raro 2020. We also have recently learned that GMM has been entered into the International Rare Disease Film Festival, Berlin, so keep your fingers crossed! During this difficult year it has been so cheering to hear some positive news about the impact Go Make Memories continues to make on its viewers as it carries on raising awareness across the globe.
In winter we released our Autumn/Winter edition of NPUK News, our bi-annual magazine. As we were unable to print an edition earlier in the year, the magazine was filled with all things NPUK including articles, fundraising news, a review of our NPUK Digital Annual Family Conference and Interactive Workshop and so much more. Don’t worry you have not missed out, a digital version of NPUK News is still available to view and download from the NPUK website.
Although we missed not being able to hold our NPUK Christmas party in person, we still made the most of the festive season in accordance with the latest restrictions in the UK. Throughout the build up to Christmas we posted a community calendar on our Facebook page, each day celebrating an individual, group, event, or area of our charity which we are proud of. This was a great way to spread a bit of festive cheer and a fantastic reminder of why the Niemann Pick UK community is so special to us.
We have recently welcomed back Former Project Team Leader Louise Metcalfe into the NPUK fold. Louise is now in the role of Families Officer. Louise’s previous work as part of the NPUK National Lottery Community Fund project “Shaping Our Future Together” has provided her with a strong insight into the needs of our community, and her existing connection and relationship with many families we support provides her with the perfect platform upon which to make a true impact.
We are excited to see what this year will bring and from everyone at Niemann Pick UK we want to wish the wider Niemann-Pick community a very positive and bright 2021.
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National Niemann-Pick
Disease Foundation
Throughout the month, Niemann Pick families across the US sent photos in support of our “I Care About Rare” program and helped us amplify the Niemann-Pick voice.
Advocacy has been a main focus for us since our last update. NNPDF is advocating on behalf NPD families, to treat rare diseases differently from mainstream diseases with larger population. We are sharing our thoughts and concerns with the FDA in order to discuss challenges of clinical trials with small patient populations, to find solutions that may make approved treatments possible in the near future, and to increase the patient voice in decision making. The past few weeks have been unsettling for the NPC community with the closure of Mallinckrodt’s clinical development program. Together with our community partners as an NPC Accelerator, we are working to identify all possible options that exist for families and for continuation of adrabetadex, and examining how to best retain data from the trials. NNPDF recently held a webinar focused on Ongoing Clinical Development Programs for Investigational Therapies in NPC which included a Question & Answer period for families. The recording of the webinar can be viewed here.
To help support our positions, we now have a vast array of data from our “Challenges of Access” Survey conducted in 2020. Preliminary findings were presented in a poster at WORLD Symposium and will also be shared in a summary report shortly. Thank you again to all of the families who participated in this survey. These responses are helping us to better understand the health insurance needs and challenges families face in accessing care and services. The data we gathered will provide the foundation needed to discuss these challenges with key opinion leaders, like legislators and regulatory officials, and to provide a platform for our fight to ensure coverage for treatment options.
To better support our families we increased our Family Services programs, including our weekly Coffee & Catching Up and Community Connections support sessions. Our Family Services Manager, Laurie Turner, actively engages with NPC and ASMD families from across the country in a variety of ways and is a wonderful resource to our families.
We are also happy to report that there is a a lot of activity with the INPDR. We are happy to be working with the INPDR’s new Clinical Research Associate, Lakeisha Simmons, to implement the Registry across US.
More information on this will be presented at our Family Support & Medical Conference, which will now be held as a virtual conference event, on July 29 - August 1st. We are thrilled to be joined by our INPDA friends and families from around the world and we know this year will be very interactive and engaging weekend filled with clinical & research updates and discussions, our unique family break-out sessions, and plenty of time to connect on our virtual conference platform throughout the weekend. Don’t forget to download the NNPDF app for connecting, updates, info, contests, and more!
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The International Niemann-Pick Disease Registry
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The International Niemann-Pick Disease Registry: Update for INPDA Newsletter JAN 2021
The impact of COVID-19 pandemic has been felt across the Niemann-Pick community, from patients and their families to professionals.
The INPDR has worked hard over the last year to maintain momentum and achieve key targets and to develop and improve the Registry for the global Niemann-Pick community. As a culmination of this work and with an impetus for the future, the INPDR is pleased to have published the Strategic Business Plan 2020 -2022.
We have outlined key targets over the next few years, with a focus on:
- Recruitment through a Global Development Plan,
- Research through data quality and access, and,
- Strengthening governance and sustainability
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If your organization is hosting a virtual event and would like to learn more about the INPDR or get an update on our plans, please get in touch by emailing [email protected].
Such events are particularly important in the current environment and the INPDR is always keen to participate in family and scientific forums. Through these events we can encourage engagement and share the opportunity to harness patient power to help the INDPR fully reflect the patient experience. Most recently, we were invited to speak at the Findacure’s Rare Disease Showcase event, where we shared how technology helps to make the INPDR happen and the difference it can make for Niemann-Pick patients in the future.
In the last newsletter, we updated you on our award from the Ara Parseighan Medical Research Fund which provided funding to recruit a new US-based Clinical Research Associate, Lakeisha Simmons. Lakeisha has extensive experience in this type of role and is already working with sites in the US. The funding and Lakeisha’s role will make a significant difference to expanding the Registry in the US.
Finally, the first edition of the INPDR newsletter is due out at the end of the month. You can subscribe via this link or by visiting our website to hear our most important updates. The INPDR is thinking of all our friends and colleagues during these unprecedented, challenging times. Stay safe.
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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:
Update from Cyclo Therapeutics on the Trappsol® Cyclo™ Development Program
Cyclo Therapeutics, Inc. has received authorization from the FDA to begin... READ MORE
IntraBio Inc.:
In the fall of 2020, IntraBio announced the positive results of the IB1001-201 clinical trial for NPC, “Effects of N-Acetyl-L-Leucine on Niemann-Pick type C Disease... READ MORE
Orphazyme:
2020 is a year none of us will soon forget. As we turn a corner into 2021, we are pleased to respond to the INPDA’s request for an update on our regulatory filings... READ MORE
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INPDA Member Spotlight
Sometimes in such a big organisation as the INPDA, our various member groups can be overshadowed, but we want to show just how important each and every member group is in making the INPDA work. In the INPDA Spotlight this month... READ MORE
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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 June edition, please forward your update to Lisa Chavez at [email protected] by May 1, 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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