Rare Disease Day

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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Prioritizing awareness and access for people living with a rare disease

Vanco Vlastimil (��ֳ� S.A.) — Tue, 28 Feb 2023 10:30:46 +0000

Prioritizing awareness and access for people living with a rare disease

Charl van Zyl, EVP Neurology Solutions & Head of Europe/International Markets

Vanco Vlastimi… Tue 28/02/2023 - 11:30

There are 300 million people in the world today living with a rare disease. Over 6,000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient-to-patient suffering from the same disease. Almost half of these diseases are neurological, and 90% of rare childhood disorders have major neurological effects.

However, with each rare disease affecting so few people, these conditions are often overlooked. The resulting lack of awareness of rare diseases remains a problem, with up to 90% of these conditions considered serious or life-threatening. In addition, although we have made tremendous progress in advancing innovation for rare diseases, 95% of rare diseases still do not have a treatment option, representing a significant unmet need.

More than ever, it’s essential that attention is prioritized on rare diseases.

This Rare Disease Day, we’re joining the global movement to raise awareness and knowledge about rare diseases. We fully support the mission of this important milestone, promoting equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. For ��ֳ�, these are all driving forces behind our commitment to the rare disease community.

There are so many areas where industry can play a role in helping to create change for people living with rare disease.

Increasing equity for people living with a rare disease in one of our priorities. It’s imperative that those living with a rare disease have equitable access to health, social care, diagnosis, and treatment. As part of our mission to address this, we’re conducting a health economics (HECON) report to better define the burden of illness of generalized myasthenia gravis (gMG) to help address these challenges and help make change for patients.

At ��ֳ�, we strive toward faster clinical trial processes in order to get new treatments out as soon as possible; work on collecting data from rare disease patients so that their “real world” experience is represented and appreciated; involve patient expertise more closely during the development process so we can listen, learn and adapt; plus much more – all with one goal: improving knowledge around these unique conditions while helping relieve some of the pressures they put on individuals, families, healthcare systems, and society alike.

��ֳ� has a growing portfolio – both approved and investigational/early research – in rare diseases including Dravet syndrome, Lennox-Gastaut syndrome, gMG, MOG, TK2d and CDKL5 deficiency disorder, and other rare epilepsies. All these conditions have unique patient populations with their own needs and challenges and will treat them all with the respect and care they deserve.

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Rare Disease Day Patients generalized myasthenia gravis Dravet syndrome Lennox-Gastaut syndrome MOG TK2d CDKL5

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Shining a light on progressive supranuclear palsy (PSP) as a rare disease

eCMSadmin — Mon, 24 Feb 2020 00:00:00 +0000

Shining a light on progressive supranuclear palsy (PSP) as a rare disease

Mark Hope, Patient Value Neurology & Europe/International Solutions

eCMSadmin Mon 24/02/2020 - 01:00

As we approach Rare Disease Day 2020, ��ֳ� are proud to reinforce our commitment to people living with progressive supranuclear palsy (PSP), and their families and loved ones.

The hummingbird is a symbol of PSP, representing how the brainstem of people living with PSP can appear on MRI scans. It is also an evocative reminder that PSP is a rare disease.

However, unlike the distinctive hummingbird, PSP is often difficult to identify by symptoms alone and is frequently misdiagnosed, often as Parkinson’s disease. This has led to a lack of awareness about what PSP actually is, and sadly many patients are not accurately diagnosed until after death.

People with PSP experience severely debilitating, neurodegenerative symptoms which worsen over time – including gaze palsy (an inability to move both eyes in a single horizontal or vertical direction) sleep issues, incontinence, trouble with swallowing and walking, as well as falls.¹ There are no treatments available today to even slow the disease – only treatments that manage symptoms to a limited degree.

This Rare Disease Day, ��ֳ� are proud to recognise and support people who are bravely living with rare diseases like PSP every day.

As part of our efforts to help improve the lives of patients, we are actively exploring whether one of our investigative medicines, an anti-tau antibody² discovered in our research laboratories in Belgium, could provide a new treatment option for people living with PSP and other neurodegenerative diseases.

Our investigative medicine is already showing promise in preclinical studies, supporting our belief in its potential value for people living with PSP and other tauopathies (neurodegenerative diseases associated with the aggregation, or clustering, of the tau protein in the brain).²

We’re working to expedite its development as quickly as possible. As with many Rare Diseases, the small number of patients living with this condition means that identifying people to take part in clinical trials can be challenging. We are embracing innovative approaches to support recruitment, working closely with the patient advocacy and neurology community to take their perspectives on board with the aim of delivering a solution that addresses their needs.

Input from these stakeholders is critical to optimise how we work: delivering value to patients through meaningful outcomes and experiences is at the core of everything we do. We’re considering how we can address some of the challenges faced by people with mobility issues in physically accessing treatment, and how we can better support these patients and their caregivers throughout their treatment journey.

��ֳ�’s approach is to follow the science, listen to and learn from patients and to deliver breakthrough solutions in areas of high unmet medical need. Our approach to PSP, and other Rare Diseases, is no different.

The fight against neurodegenerative diseases, and especially PSP, is complex. However, in partnership with patients, caregivers, researchers, and healthcare professionals, all with a common goal to address unmet needs, we believe our “Inspired by patients, driven by science” philosophy will help shine a light on the journey towards the development and validation of new solutions.

^{1. To find out more about PSP, click here.}

^{2. Read more about anti-tau antibodies in neurodegenerative diseases here.}

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PSP tau RDD 2020 Rare Disease Day

Comment:

Posted by Jeannine Artois, 26 February 2020

Having my sister living with PSP, I feel particularly involved in all ��ֳ� can do to help these patients. I thank you so much for going ahead in this research and finally find something to help this REALLY debilitating disease ! A special thank you to Alex Klein

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Rare Disease Day

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

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Prioritizing awareness and access for people living with a rare disease

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Shining a light on progressive supranuclear palsy (PSP) as a rare disease

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