Rare Diseases

Championing a future of hope in rare disease: ��ֳ�’s Aspire4Rare vision

Vandenbruaene Nathalie — Tue, 28 May 2024 10:14:15 +0000

Championing a future of hope in rare disease: ��ֳ�’s Aspire4Rare vision

Gabriella Almberg, Global Patient Engagement, Access & Policy

Vandenbruaene … Tue 28/05/2024 - 12:14

As we reflect on the discussion and debate at the recent 12th European Conference on Rare Disease and Orphan Products (ECRD), it is clear that challenges remain for the 300 million people living with rare diseases worldwide. Often overlooked and under-represented, there is a consensus among the rare disease community that we need to strengthen and futureproof our health systems. To help catalyze this reform, ��ֳ� has launched the Aspire4Rare report.

Born out of ��ֳ�'s commitment to the rare disease community and a recognition of the current progress and challenges in rare disease policy, Aspire4Rare engages a multi-disciplinary group of experts in rare diseases from policy, health, research, and patient advocacy backgrounds across Europe and the U.S. Together, we strive to develop holistic and sustainable systems for people living with rare diseases and advocate for tangible measurement of performance. The Aspire4Rare report is a tool built around a new global framework designed to assess and measure the effectiveness of rare disease policies – are they improving the time to diagnosis, is care improving, are new treatments becoming available? It is a statement of our intent, and the essence of the framework is to provide tangible outcomes, measures, and good practice examples to guide local health systems in actioning rare disease policies effectively.

Ensuring rare disease remains at the forefront of healthcare policy
Why did ��ֳ� commission this report? The answer lies in our mission to ensure that people living with rare diseases have equitable access to health systems. As a newer member of the rare community, we recognized the significant progress in rare disease research, healthcare, and policy that has been made in the last few decades. To catalyze progress, we saw an opportunity to bring together the great work using a common framework that can be adapted to build on the existing frameworks, facilitate knowledge transfer, and promote learning for the future.

Rare diseases affect millions worldwide, yet their fragmentation makes it challenging to address them comprehensively within health policies. The report recognizes the current challenges in accessing appropriate care, the uncertainty that comes with a diagnostic odyssey, the sense of isolation, and decreased quality of life.

Using the World Health Organization’s Health Systems Framework as a starting point, the Aspire4Rare Framework is intended as a basis for conceptualizing an approach to accelerate systems-level change to improve outcomes. It is effectively a cornerstone for policymakers, patient organizations, and others, offering a basis for discussion and implementation of rare disease strategies at local and national levels. We draw significant insights from past and existing successful initiatives, such as the International Rare Diseases Research Consortium, Rare2030, and Orphanet/Orphacodes, which have outlined aspirational policy goals and recommendations. Furthermore, the leadership and advocacy efforts of organisations such as EURORDIS and Rare Disease International have been instrumental in shaping policy and enhancing the visibility of rare diseases on the global stage. Aspire4Rare aims to extend these efforts, placing a strong emphasis on tangible, practical actions.

While ��ֳ� recognizes four key priority areas for policy practitioners – including early diagnosis, access to treatments, collection and use of data, and flexible regulatory pathways – it is crucial to assess the performance of health systems using a consistent framework. This approach provides a structured way to address complex problems and can be utilized for discussions with implementation partners, policy learning, scenario planning, and operationalizing rare disease strategies.

Building the momentum for an EU Action Plan
Aspire4Rare aligns with the growing demand for an updated EU Action Plan, ensuring Europe's continued leadership in rare disease research, development, and care. With the last strategy dating back over 14 years, a new framework will facilitate coordination among member states, amplify existing National Action Plans, and drive improvements in the lives of millions affected by rare conditions. Recognizing both progress and persistent gaps in care provision, an EU action plan for rare diseases becomes not just a policy challenge, but a moral imperative to transform lives and unlock opportunities for medical and societal breakthroughs.

Aspire4Rare: an enduring call to action for the rare disease community
As we reflect on the progress made at ECRD 2024, to translate the current political momentum into comprehensive actions for the EU’s next cohort of policymakers and leaders, we hope that Aspire4Rare is an enduring call to action for the rare disease community. The initiative is a testament to what can be achieved when industry leaders, policymakers, healthcare professionals, and patient organizations come together with a common goal: to ensure that rare diseases remain a priority, not only in policy discussions, but in tangible actions that improve the lives of those affected.

The Aspire4Rare approach goes beyond simply outlining the desired outcomes for rare disease policy. It focuses on identifying the practical steps necessary to achieve those outcomes. In this sense, Aspire4Rare is not just a report; it serves as a practical guide for building towards the future. It envisions a future where rare diseases take center stage in healthcare policies and drive innovation. To see how your health systems can benefit from the Aspire4Rare framework, you will find the report here.

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Working alongside the rare disease community to enhance access and elevate the patient voice

Vandenbruaene Nathalie — Thu, 29 Feb 2024 08:58:52 +0000

Working alongside the rare disease community to enhance access and elevate the patient voice

Donatello Crocetta, Global Rare Disease＆Rare Medical

Vandenbruaene … Thu 29/02/2024 - 09:58

On Rare Disease Day - this year falling on the rarest of days, 29 February - we’re proud to show our support for the rare disease community. There are over 300 million people globally living with a rare disease, of which 95% still don’t have access to appropriate treatment options. With up to 90% of these rare conditions considered to be serious or life-threatening, increasing awareness and equitable access is ever more urgent.

Today, and every day, we’re committed to working alongside the rare disease community to make life better for patients and their families.

Striving for early and equitable access
At ��ֳ�, we’re committed to increasing equity for those living with a rare disease. Our rare disease philosophy is driven by our dedication to overcome the barriers that prevent early, sustainable and equitable access to health, social care, diagnosis and treatment. In tackling these obstacles, we can support patients in reducing the burdens of their condition, allowing them to live their best lives.

We’re constantly optimizing our approaches, including improving the speed of our clinical trial processes to get new treatments out into the world as soon as possible, as well as close collaboration with patients to learn from their expert insights.

Clinical development and clinical trial design is known to be particularly challenging within rare disease due to the smaller patient populations - it’s why we’re always engaging with networks of patients and advocacy organizations across the globe, helping to determine optimal trial design and support the participation and facilitation of a positive trial experience. Making these strides forward is only possible through partnering with patient and professional communities and Rare Disease Day plays a vital role in advancing these processes. Improving knowledge around rare diseases can help educate and empower patients to join us in driving research that is adapted to their needs and measure what truly matters to them.

A focus on the entire patient population
We’re conscious of the need to take into account Social Determinants of Health (SDoH) which can impact how patients respond to treatment. For example, a recent retrospective observational study using medical and pharmacy claims data, led by ��ֳ� and presented at the 2023 American Association of Neuromuscular and Electrodiagnostic Medicine (AANEM) annual meeting1, showed SDoH may be associated with poorer treatment among patients with myasthenia gravis. This type of research suggests there could be value in healthcare providers identifying at-risk communities who could benefit from additional support.

Elevating the patient voice for better outcomes
At ��ֳ�, we know from our experience working closely with the community that no two rare disease patients are the same. By listening to and learning from those living with a rare disease, we can better understand the lived experiences of patients and look for treatment options that best meet the individualized needs of patients. There are still significant gaps in care for people living with a rare condition; working in partnership is essential to identifying and addressing them.

Our proximity to the community was never stronger than during our recent Rare Disease Connect in Neurology meeting. We met with patients, patient organizations, pharmacists and other healthcare professionals to drive forward the scientific conversation and build momentum in the rare disease landscape, starting and continuing essential conversations.

This patient-centric approach, guided by lived experiences, is at the heart of our approach to raising awareness and improving outcomes in rare disease. We’re excited to continue fostering strong partnerships to help address unmet needs and make a positive difference to those living with a rare disease.

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Rare Disease Day Rare Diseases

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

Vanco Vlastimil (��ֳ� S.A.) — Fri, 21 Apr 2023 11:45:47 +0000

AAN 2023: A unique opportunity to connect with the Global Neurology Community

Donatello Crocetta, ��ֳ� Rare Disease Organization

Vanco Vlastimi… Fri 21/04/2023 - 13:45

Medical meetings and congresses like the American Academy of Neurology Annual Meeting provide a unique forum for the latest advances in research, medicine, and clinical practice to be, shared, presented, and discussed.

The massively varied progamme of scientific sessions, posters and symposia are an important way for delegates to stay up-to-date on the latest developments in the field. Because of the cross-functional and cross-cultural composition of attendees from around the world, there are often lively discussions and debates which can lead to new and unique perspectives being shared. These viewpoints can stimulate new approaches, important advances and, potentially, exciting improvements in patient care and treatment outcomes. They can also be a genesis for new collaborations and partnerships alongside opportunities for enriching professional development.

This spirit of collaboration, and a willingness to embrace perspectives outside our own experience, is crucial for advancing research and improving patient care. At ��ֳ�, we believe strongly that the best way to make a difference is to be part of the discussion. By working together as one community, our voice can be immeasurably amplified. Indeed, I believe by embracing this partnership approach we can make significant strides in better understanding complex neurological conditions, identifying new approaches to delivering improved patient outcomes.

Because we are focused on delivering differentiated patient value across multiple neurological therapy areas, the AAN meeting is a natural environment for ��ֳ� to connect with and learn from delegates from around world. We are united in our passion to better understand disease mechanisms which underpin the complex neurological diseases faced by patients. These insights help us to identify and develop new drug targets and therapies, and design clinical trials which resonate with the real-world outcomes patients value with the aim of improving patients' quality of life.

With our proud heritage in neurology, we’re excited to be sharing a diverse scientific programme at this year’s AAN congress, as we continue to pioneer new research into debilitating neurological conditions such as epilepsy and Parkinson’s disease, with the goal of improving patient outcomes and experiences. We’re also focusing our efforts toward communities living with rare diseases such as myasthenia gravis, autoimmune encephalitis and rare forms of epilepsy such as Dravet syndrome and Lennox-Gastaut syndrome. While individual rare diseases are uncommon, collectively they affect a significant portion of the population.

By taking a multi-faceted approach that focuses on increasing awareness and education, supporting patient advocacy, promoting research and innovation, improving access to care, and facilitating collaboration, we can work towards improving care for patients with rare diseases. Which is why, I’m so excited about the opportunity to connect with the community at this year’s AAN meeting!

Of course, there is still much work to be done. However, progress being made in rare disease research is inspiring, and continues to progress at pace. With continued research and open collaboration there is reason to believe both rare and more common diseases can be better understood and more effectively treated in the future.

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AAN Neurology American Academy of Neurology Rare Diseases epilepsy

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Collaborating with the patient community, for the patient community, in MG

Vandenbruaene Nathalie — Mon, 28 Feb 2022 08:08:06 +0000

Collaborating with the patient community, for the patient community, in MG

Sophie Housiaux, Medical Patient Engagement, Rare Disease Organization

Vandenbruaene … Mon 28/02/2022 - 09:08

‘Collaborating for the myasthenia gravis patient community’: The full patient-led report can be read here.

In recognition of Rare Disease Day 2022, we are pleased to launch our new report ‘Collaborating for the myasthenia gravis community’. Created in partnership with patient organization leaders across Europe, this is a community-led call-to-action to identify, validate and initiate action to address the most urgent needs facing those living with myasthenia gravis (MG).

Working in close collaboration with the MG patient community
Patients are at the center of everything we do at ��ֳ�, so their voices must be front and center of any initiative. This report is the result of a long-lasting partnership with patient advocates in Europe, grounded in the framework of the EURORDIS-coordinated Rare 2030, where we listened to the real-life MG experience and, as part of a dedicated MG Patient Experience Expert Roundtable, set forth actions to tackle the most pressing issues uncovered.

I would like to thank each of the MG patient advocates for your invaluable contribution to this report, which is only possible due to your efforts and expertise.

Looking ahead
This report is just the start — uniting advocates and experts from across Europe to issue a rallying cry to those who make decisions about MG management and treatment. In the words of the report’s Foreword co-authors, Raquel Pardo, AMES, Spain and Johan Voerman, Spierziekten Nederland, the Netherlands, “Collaboration must be the cornerstone of any effort to improve life with MG.” The time is now to take action. We hope that, upon reading this report, you are inspired to join us.

The findings
You can read the full patient-led report here to find out more about the key findings and calls-to-action.

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Rare Diseases Myasthenia Gravis

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Employee engagement and mobility drives better patient outcomes

eCMSadmin — Wed, 16 Dec 2020 00:00:00 +0000

Employee engagement and mobility drives better patient outcomes

Marie Blanchard, Patient Value Neurology & Europe/International Solutions

eCMSadmin Wed 16/12/2020 - 01:00

As we approach the end of this year – one that has challenged many of us to adapt to the realities of “living at work,” I have been reflecting on our work at ��ֳ� and the strength that comes from never losing sight of people – specifically the patients we serve and the people we work with who drive our mission forward.

The global trials of 2020 came as ��ֳ� was embarking on new challenges of its own – evolving our quest to answer the needs of the many unheard voices in the rare disease space. And for me, all of this came with more personal changes as I transitioned into a new function at the company in market access.

When I started at ��ֳ� four years ago, I was struck by how tangible the drive to achieve success is for the patients we serve across the organization. Just as remarkable is how much ��ֳ� supports individual employees in their career pursuits. I find purpose in working for a company that supports employees’ ambitions and passions, while keeping patients’ needs at the forefront. I’ve experienced this first-hand with my own move from policy into market access, combined with a two-year assignment in the ��ֳ� Strategic Plan team. ��ֳ� has supported my own ambitions to explore new roles outside of my areas of expertise because they know that encouraging people to pursue their passions at work makes for a stronger company.

In a year where each of us has rediscovered the need to adapt, to take stock of our health and wellness and support each other, working directly with rare disease communities is a reminder that these patients have lived with health concerns for far longer as they manage their unique and varied needs. According to the NIH, there are 7,000 known rare diseases and only 5% of them have treatment options. While each individual patient community in a rare disease might be smaller, the need for safe and effective treatments is immense, and we are driven to help fill in those gaps. ��ֳ� has the potential to make a tangible difference.

��ֳ� is determined to take its commitment to patients a step further through its sustainability initiative, pioneered last year, which promotes health equity, ensuring that every patient that needs a ��ֳ� medicine, has access to it in a viable, sustainable way. As we move our rare disease work forward, I have been heartened to see so many of my colleagues rise to – and exceed – the challenges of this moment.

Even as we are physically apart, I’m so grateful to be in a supportive environment and surrounded by passionate teammates, who value patient-centric innovation and who are committed to providing solutions that optimize the care pathway for patients. With 2020 nearly in the rear view, I can say with certainty, that it is our commitment to putting people first that has enabled us to not only weather the uncertainties of this year, but has helped us thrive, grow and come out stronger.

Those living with rare diseases often feel forgotten, misheard or misunderstood. There is an incredible opportunity for passionate, entrepreneurial people to contribute to writing ��ֳ�’s next chapter by delivering impactful solutions for rare disease patients. If you’re interested in committing yourself to aiding those in need, while feeling supported by a company that shares your values and supports your ambitions, I welcome you to join something rare and be part of the experience, by exploring our opportunities, here.

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Scientific Collaboration and Innovation in Hematology

eCMSadmin — Fri, 04 Dec 2020 00:00:00 +0000

Scientific Collaboration and Innovation in Hematology

Maya Isaila, PV Neurology & Europe/International Solutions

eCMSadmin Fri 04/12/2020 - 01:00

Medical meetings provide an array of opportunities including relationship building and collaborations with healthcare and research experts. It is essential to work together to share ideas and exchange knowledge to promote healthy living and positive health outcomes for both preventative and curative care. Over the next few days, ��ֳ� will be virtually participating in the 62nd American Society of Hematology (ASH) Annual Meeting and Exposition.

We will be sharing best practices, discussing scientific collaborations, attending informative sessions and networking with experts to further inform our research and development efforts. ��ֳ� brings a deep heritage in epilepsy, Parkinson’s disease and immunology and our approach to expanding into hematology builds on these foundations. A crucial part of the healthcare journey is establishing relationships and as a physician, I am committed to helping build and foster these connections at meetings like ASH.

At the intersection of hematology and rare disease, ��ֳ� is focused on patients living with immune thrombocytopenia (ITP), a rare and chronic bleeding disorder in which the immune system destroys platelets. ITP can cause an array of physical symptoms from bruising to gum, nose bleeds and more severely to intracranial bleeds. Beyond physical symptoms, living with ITP can take a significant toll on a person’s life affecting their emotional and social interactions and cause additional stress and setbacks to their career development due to managing the disease and the uncontrollable symptoms.

The well-being of every single patient is important and it’s hard to see treatments failing. Though the path to innovative treatment options can present challenges, ��ֳ� is dedicated to addressing people’s quality of life, and their symptoms. Our rare disease experts continue to work towards a potential solution for adults living with ITP. We recently announced positive final results from the Phase 2 trial of our investigational treatment for ITP, and we are now in Phase 3 testing.

With the COVID-19 pandemic forcing healthcare practices and clinicians to re-evaluate their standard practices and procedures, the role and unique benefit of virtual meetings brings an opportunity to include more novel, cross-disciplinary projects. At ��ֳ� we remain steadfast in our commitment to rare disease patients and are looking forward to engaging in clinical dialogue with experts across the industry and around the world as we continue to drive solutions for patients living with ITP.

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Our focus on Myasthenia Gravis at AANEM 2020

eCMSadmin — Wed, 07 Oct 2020 17:00:00 +0000

Our focus on Myasthenia Gravis at AANEM 2020

Ahmad Alrawi, Neurology Patient Value Unit

eCMSadmin Wed 07/10/2020 - 19:00

As we convene this year’s annual meeting of the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM), it’s important to acknowledge how different this year’s event is – and to embrace the chance for us to connect digitally.

Although, this year, we might not be sharing the same physical space, we are no less committed to using this week to learn and collaborate with our peers to improve patient care. Throughout the meeting, ��ֳ� will be joining in conversations to advance support and care for those who live with rare conditions like generalized Myasthenia Gravis (gMG). We are harnessing this opportunity to share research, insights and perspectives that we hope could improve the lives of people living with rare neuromuscular conditions.

We are proud to be sharing for the first time our “gMG Never Rests,” campaign at AANEM, an initiative which acknowledges the unique, unpredictable challenges patients with gMG can experience. The campaign is designed to help improve recognition of and communication about the burden of gMG and to better equip neurologists in addressing and responding to patient needs. In an AANEM Industry Forum, on Friday, October 9 from 9:15-10:15am CDT, we will be hosting MG experts and a patient with first hand lived MG experiences to discuss how the community can work together to better predict the unpredictable in gMG.

At ��ֳ�, we know that many patients with uncontrolled gMG live each day with a sense of instability as they cope with unpredictable, debilitating symptoms and worries about the risk of serious events related to their condition. Given the wide range of and fluctuating nature of gMG symptoms, it can be difficult for physicians to understand when a condition is under control. We hope “gMG Never Rests” will help patients feel supported and understood while navigating their own experiences.

Also at AANEM, ��ֳ� will be presenting an abstract titled “Treatment and Burden of MG: A Retrospective Study of a US Insurance Claims Database.” This study assessed the treatment patterns and burden of disease among patients with gMG. Despite current treatment options, the burden of disease remains high, which demonstrates a need for additional therapeutic options. The analysis will be presented on Saturday, October 10 at 3:15–3:45pm CDT.

AANEM offers a great moment for scientific exchange of the latest clinical and scientific developments in neuromuscular and electrodiagnostic medicine, and ��ֳ� is excited to be a part of advancing the treatment of neuromuscular conditions like gMG. Throughout the meeting we will be showcasing all of our activities via a virtual booth experience. Registered delegates can visit the booth to learn more about how ��ֳ� is building something bold for people living with Rare Diseases!

To everyone participating in the meeting we look forward to connecting with you over the coming days!

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AANEM Rare Diseases Mysathenia Gravis MG

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Rare Diseases

Championing a future of hope in rare disease: ��ֳ�’s Aspire4Rare vision

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Working alongside the rare disease community to enhance access and elevate the patient voice

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

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Collaborating with the patient community, for the patient community, in MG

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Employee engagement and mobility drives better patient outcomes

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Scientific Collaboration and Innovation in Hematology

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Our focus on Myasthenia Gravis at AANEM 2020

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Rare Diseases

Championing a future of hope in rare disease: ������ֳ�’s Aspire4Rare vision

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Working alongside the rare disease community to enhance access and elevate the patient voice

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AAN 2023: A unique opportunity to connect with the Global Neurology Community

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Collaborating with the patient community, for the patient community, in MG

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Employee engagement and mobility drives better patient outcomes

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Scientific Collaboration and Innovation in Hematology

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Our focus on Myasthenia Gravis at AANEM 2020

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Championing a future of hope in rare disease: ��ֳ�’s Aspire4Rare vision