Rare Disease

Our Commitment to Advancing Treatments for TK2d

Andrea_Puletto — Tue, 18 Mar 2025 07:47:15 +0000

Our Commitment to Advancing Treatments for TK2d

Fabian Somers, Patient Evidence

Andrea_Puletto Tue 18/03/2025 - 08:47

At ��ֳ� we are driven by our commitment to people living with severe diseases who inspire our research and development across neurology, immunology, and other areas where our, expertise, innovation and ambition align with unmet needs.

One such area of unmet need is in the management of thymidine kinase 2 deficiency (TK2d), where there are no approved therapies or international clinical guidelines. This rare, debilitating mitochondrial disorder affects children and adults, leading to progressive muscle weakness and severe mobility and respiratory challenges.

We recognize the urgent need for innovative therapies and are committed to driving research forward. Our team is working tirelessly to advance potential treatments that target the underlying causes of TK2d, offering hope to patients and families who currently have limited options. By collaborating with leading researchers, patient advocacy groups, and the medical community, we aim to accelerate the development of effective treatments that improve quality of life.

Every breakthrough begins with a commitment to those affected. We stand with the TK2d community and will continue to invest in advancing medical education and breakthrough science, ensuring that no one facing this condition is left without hope.

Stay connected with us for updates on our progress and learn how we’re making a difference. Together, we can bring new possibilities to those in need.

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What does the future look like for rare genetic epilepsies?

Andrea_Puletto — Fri, 06 Dec 2024 10:21:24 +0000

What does the future look like for rare genetic epilepsies?

Christian Wolff, Epilepsy Discovery Research

Andrea_Puletto Fri 06/12/2024 - 11:21

Research into rare genetic epilepsies is advancing rapidly, with multiple promising clinical developments that are underway. Across the industry, considerable efforts are being made to better care for people living with rare or treatment-resistant epilepsies through innovative science. At ��ֳ�, this means building a comprehensive understanding of the patient needs and the underlying causes of epilepsies, and seeking new ways to modify disease processes to improve outcomes.

Understanding the underlying disease mechanisms

Driving research into rare and treatment-resistant epilepsies requires us to combine our deep heritage in epilepsy with the latest technological innovations. By better understanding the molecular signatures and pathways that form the root causes of these complex diseases, it is opening up opportunities to target the underlying mechanisms that cause epilepsies.

KCNT1-related epilepsies are a group of rare epilepsies caused by a variation in the KCNT1 gene and include epilepsy of infancy with migrating focal seizures (EIMFS) and sleep-related hypermotor epilepsy (SHE). Most children have severe developmental and intellectual disability, and their seizures are difficult to control. ��ֳ� is collaborating with Praxis Precision Medicines, focusing on potential treatments for KCNT1-related epilepsies. This partnership aims to enhance understanding of the underlying causes of epilepsy, with a focus on exploring potential disease-modifying treatments.

It’s all part of our focus on disease modification, acting at the root cause of a disease rather than just addressing individual symptoms. By carefully observing the whole spectrum of symptoms and understanding of how epilepsies progress, coupled with research into the disease pathobiology, we hope to identify suitable targets for disease modification.

Beyond seizure control

The ultimate goal of our research is to find treatment approaches for people with rare genetic epilepsies who often struggle to find effective therapies and as a result, do not experience freedom from their persistent seizures. However, disease impact goes well beyond the symptomatic control of seizures and to make a meaningful impact on people’s lives we need to think more holistically about epilepsies.

For many people living with epilepsies, seizures are not always the primary or most impactful symptom they face in everyday life. Cognitive impairments, developmental delays, psychiatric conditions, and detrimental impacts on quality of life frequently accompany rare epilepsies yet are often underdiagnosed or inadequately treated. It’s essential that we consider these non-seizure outcomes associated with epilepsy as we seek to discover new solutions that look to improve quality of life holistically.

Several reports presented during this year’s American Epilepsy Society Congress (AES) focused on the relationship between sleep and epilepsy. A retrospective observational analysis found sleep apnea comorbidity is an important and potentially actionable factor associated with increased mortality in children and young adults with severe epilepsy. Traditionally sleep is assessed in a clinical setting using an elaborate electrical signal setup (EEG, ECG, EMG, EOG) * and respiration measurement. One study presented at AES found that sleep can be reliably assessed from a behind-the-ear EEG montage in an automated way in both healthy subjects and patients with Dravet Syndrome. The ability to assess sleep in a non-intrusive way has great potential to detect sleep-related co-morbidities associated with Dravet syndrome.

By better understanding the holistic challenges that the community faces we can drive advancements in how rare epilepsies are treated, with the full perspective of the patient and their family in mind.

A glimpse into the future

As we look to the future, it’s vital that we continue to raise awareness of rare epilepsies, partly due to the vast number of patients undiagnosed, but also to create a more supportive environment for all those living with these debilitating conditions.

The future of epilepsy research, particularly for rare genetic epilepsies, is promising. By focusing on new modalities, developing novel disease-modifying treatments, addressing comorbidities, and leveraging advanced technologies, we hope to find a way to not only control seizures but also improve overall quality of life for those living with epilepsies and their families. As our understanding of the epilepsy spectrum grows, so does the potential to explore new approaches that could change the course of rare epilepsies.

For more information about epilepsy, visit Epilepsy & Rare Syndromes at ��ֳ�.

* EEG (Electroencephalogram) measures electrical activity in the brain. ECG (Electrocardiogram) monitors heart rhythms and electrical activity. EMG (Electromyography) assesses muscle response. EOG (Electrooculography) tracks eye movements.

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Comment:

Posted by Sarah Drislane, 6 December 2024

The KCNT1 Epilepsy Foundation is grateful for your continued work in understanding and developing treatments for KCNT1 -related disorders and other DEEs!

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Embracing patient-centered research: the transformative power of partnership

Andrea_Puletto — Fri, 28 Jun 2024 08:15:13 +0000

Embracing patient-centered research: the transformative power of partnership

Donatello Crocetta

Andrea_Puletto Fri 28/06/2024 - 10:15

As we gather at the 10th Congress of the European Academy of Neurology (EAN) in Helsinki, we look forward to engaging in discussions about the latest scientific progress and clinical advances in patient management. However, amidst the ever-evolving healthcare landscape, one concept stands out as a guiding principle for transformative progress: patient-centered research. By placing patients at the forefront of scientific inquiry, we can drive innovation, improve patient outcomes, and shape human-centric science.

Understanding the patient perspective

Patient-centered research begins by recognizing that patients are not passive recipients of care but active partners in the research process. Their insights and experiences provide invaluable guidance for scientists and clinicians. By listening to patients, we gain a deeper understanding of the impact of diseases on their lives, uncover unmet needs, and identify areas for improvement. This empathetic approach fosters a collaborative environment where patients and researchers work hand in hand to drive innovation.

At ��ֳ�, we firmly believe that this form of partnership is more transformative than any other. By building trusted relationships with patients, we gain insights into the personal impact of their conditions that cannot be obtained from trial data or the test tube alone. This partnership aligns the medical and clinical perspectives of professionals with the holistic perspective of patients' life experiences. By working together, we can amplify the success of new discoveries and create breakthrough innovations.

The power of partnership

Partnership with patients is a valued relationship that requires investment and long-term commitment. It enables us to align efforts, maximize results, and address challenges from different perspectives. By prioritizing the individual needs, preferences, and experiences of patients, we can drive personalized healthcare. For example, in our clinical trials, we strive to make participation as easy as possible, minimizing disruption to participants' day-to-day lives.

By combining patient-centered design with innovative technologies, we increase flexibility and optionality. So, for example, our understanding of myasthenia gravis (MG) has been enhanced by the MG Symptoms PRO scales, a tool co-developed by ��ֳ� with over 90 adults living with MG and MG clinicians that provides a quantifiable means of assessing MG symptoms, aligning with patients' lived experiences and paving the way for the development of enhanced management strategies.

Enhancing research through patient insights

By actively listening to patients and incorporating their insights, we can enhance the quality and relevance of our research. Patient-reported outcomes, such as fatigue and symptom improvement, provide valuable insights into the effectiveness of therapies and help us address the holistic well-being of patients. This data-driven approach ensures that our research is grounded in objective evidence and tailored to individual needs.

��ֳ� is committed to patient-centered research, as evidenced by our focus on understanding the symptom burden and impact of rare diseases like MG. At this year's EAN congress, we are showcasing data that highlight patient-reported outcomes, such as fatigue and symptom control.

Now that we’ve moved away from seeing patients as just patients, let’s continue to prioritize the insights from people’s lived experiences to drive transformative advancements in healthcare. Let us invest in building trusted relationships with patients, listening to their perspectives, and collaborating to drive innovation. It is fitting that EAN occurs during Myasthenia Gravis Awareness Month, which highlights the urgency to take action to address the high disease and treatment burden on people living with MG and the importance of listening to their individual needs to help improve treatment outcomes. Together, we can create a future where patient-centered research is not just a guiding principle, but a fundamental approach that shapes science and improves the lives of patients worldwide.

To learn more about our culture and how innovation drives everything we do, visit Innovation is | ��ֳ�.

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Understanding More About the Lived Experiences of People Living with Myasthenia Gravis

Vanco Vlastimil (��ֳ� S.A.) — Tue, 27 Jun 2023 04:00:00 +0000

Understanding More About the Lived Experiences of People Living with Myasthenia Gravis

Daphne Teo, US Communications

Vanco Vlastimi… Tue 27/06/2023 - 06:00

At ��ֳ�, our work is rooted in a culture of dialogue, collaboration, and respect. These tenets allow us to forge bonds with the people we serve and those who know their challenges best, ensuring that our work can have the greatest possible impact.

During Myasthenia Gravis Awareness Month, ��ֳ� recommits to addressing the challenges of the myasthenia gravis community by continuing to invest in meaningful partnerships to deliver valuable solutions for the patients we serve.

Part of that partnership and collaboration for ��ֳ� is showing up: being there to listen to patients, to not only learn more about them but also from them. ��ֳ� is there to amplify the voices of patients, so that there can be greater understanding and awareness for those living with rare conditions, such as myasthenia gravis.

Kimberly Moran, Ph.D., Head of U.S. Rare Disease, recently had a chance to have a Q&A with Alexis Rodriguez, who was diagnosed with myasthenia gravis 25 years ago. She listened to Alexis about how the journey living with a rare disease is complex and how every patient is different. They discussed how people living with myasthenia gravis are seeking more resources and education on this rare condition.

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Myasthenia Gravis Rare Disease Patients

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Harnessing knowledge and partnership to improve lives of people living with Myasthenia Gravis

Vanco Vlastimil (��ֳ� S.A.) — Thu, 01 Jun 2023 13:22:10 +0000

Harnessing knowledge and partnership to improve lives of people living with Myasthenia Gravis

Donatello Crocetta, ��ֳ� Rare Disease Organization

Vanco Vlastimi… Thu 01/06/2023 - 15:22

In MG, increasing the evidence and knowledge will help bring better solutions for those living with this debilitating rare disease.

Like many individuals living with a rare disease, people with Myasthenia Gravis (MG) can experience high medical and non-medical needs, presenting challenges for themselves, their families, healthcare systems and wider society.

As a rare disease, knowledge about MG amongst the general population is low. Compared to more common illnesses, people are less likely to know someone living with MG. The same is often true amongst non-specialist clinicians, many of whom may never treat an MG patient during their career. Because of this, wide-spread understanding about this rare neuromuscular disease is limited, with relatively few centres of excellence and around the world compared to other spheres of specialty medicine.

At ��ֳ�, we strongly believe in contributing to and improving the evidence base for MG, improving the knowledge and understanding of this rare and debilitating disease. For us, this is a fundamental foundation in being able to make changes that address the unmet needs of people living with MG, and ultimately, helping them to live the life to which they aspire.

An important part of achieving this goal is partnering with the MG community to listen to and elevate their voice. Whether though educational initiatives, participation in medical, scientific or advocacy meetings or engaging directly with patient and clinical experts, we are extremely proud of our record of working with the MG community.

Over the last eight years, we have gathered evidence and insights about this rare disease in partnership with the MG community. This includes pioneering published research highlighting the real-world lived experiences of patients with MG across the globe, alongside perspectives of the global MG community on the barriers, challenges and opportunities to improve awareness, diagnosis and management of MG.

This research has flagged insights which have helped shape the way in which we engage and communicate with the community, as well as broadened our understanding about an MG patients’ journey. For example, MG patients reported contracting over 14 different types of specialists – including neurologists, primary care physicians and ophthalmologists - at some point in their care. It has also helped us to appreciate the extent to which, beyond managing the symptoms of the disease, living with MG can impact factors such as employment and early retirement; assistance of a caregiver for daily living and Quality of Life.

During this MG Awareness Month, we excited to be able to shine a spotlight on some of the activities taking place around the world to raise awareness about MG. We are proud to be able to demonstrate the depth and breadth of knowledge which has helped to shape our research and decision making, and we are excited to continue to share more important findings and insights that we hope might contribute to transforming patients’ lives.

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MG Awareness Month Myasthenia Gravis Rare Disease

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��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

Vanco Vlastimil (��ֳ� S.A.) — Tue, 13 Sep 2022 08:14:37 +0000

��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

Donatello Crocetta, ��ֳ� Rare Disease Organization

Vanco Vlastimi… Tue 13/09/2022 - 10:14

Every family who lives with rare disease has experienced formidable challenges while playing a key role in the journey for treatment and a cure. As the healthcare industry aims to uncover more around rare diseases, the important role that community plays for rare disease families is pivotal as each find their way in a new reality, advocate for one another and help educate the wider healthcare communities to be a part of the solution.

That’s why we’ve made it a top priority at ��ֳ� to support families living with rare diseases. We’re committed to growing our knowledge of these diseases, pursuing new treatment options, and advocating for rare disease communities.

An important area of focus for us is thymidine kinase 2 deficiency (TK2d), a rare and debilitating infantile onset genetic mitochondrial disease which can be life threatening. Symptoms include severe muscle weakness as well as loss of motor and respiratory functions. This can impact a patient’s ability to walk, eat, and breathe independently and, in some cases, may lead to an early death.

TK2d results from a mutation in the TK2 gene that reduces the production of an important enzyme, thymidine kinase 2 (TK2). TK2 plays a key role in proper functioning of your mitochondria, which provides the energy that powers many critical body functions.

Because doctors still have limited information on TK2d — and because many other diseases have similar symptoms — it can take a long time to diagnose the disease. According to a 2018 survey, 55% of patients received a different diagnosis before being correctly diagnosed with a mitochondrial disease, and 32% of those patients had multiple misdiagnoses. Fortunately, genetic testing is now available, offering a quicker path to diagnosis.

While healthcare providers can help manage symptoms, there are no FDA-approved therapies to treat TK2d today.

The good news is there are several clinical trial programs underway for TK2d and other mitochondrial diseases. At ��ֳ�, we’re working to advance the understanding of TK2d and raise awareness of the families affected by it. On TK2d Tuesday, I hope you’ll join us in showing your support and spreading the word.

Visit our Rare Diseases page to learn more about ��ֳ�’s commitment to rare disease.

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TK2d Rare Disease Rare Disease Community Patients

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Understanding and recognizing the real-life impact of little understood conditions: We highlight Global ITP Awareness Week

eCMSadmin — Tue, 21 Sep 2021 16:00:00 +0000

Understanding and recognizing the real-life impact of little understood conditions: We highlight Global ITP Awareness Week

Danielle Hartigh, Rare Disease Patient Engagement

eCMSadmin Tue 21/09/2021 - 18:00

I was recently speaking with a patient who, for almost 30 years, has lived with immune thrombocytopenia (ITP) a life-changing rare blood disorder that causes painful bruises and uncontrolled bleeding. Before her diagnosis she considered herself a healthy young woman with a career in the armed forces. Since then, she has re-organized her life to adapt to her condition, which she describes as debilitating, challenging and often a rollercoaster of emotions.

With ITP, a malfunction in the body’s own immune system causes it to attack and destroy certain blood cells known as platelets. Platelets are crucial to the blood clotting function which prevents bleeding when you cut or bruise yourself. This means people living with ITP typically experience numerous blueish black marks on their bodies where small knocks have caused extensive bleeding. They may also suffer debilitating fatigue, as well as psychological symptoms such as depression and anxiety. As became clear from my conversation, the physical and emotional impact of living with ITP and the isolation which can accompany it can take its toll.

Despite there being over 200,000 people living with ITP worldwide, very few people know about the condition. This week, together with the Platelet Disorder Support Association (PDSA), the International ITP Alliance, ITP Support UK, and many other patient organizations around the world, ��ֳ� is recognizing Global ITP Awareness Week (September 20-24, 2021, with the full month of September being recognized in the United States). This awareness milestone helps amplify the voices in the community, so that people living with ITP can feel seen, heard and supported. To take part, people can participate in planned activities, including the Sport Purple for Platelets Day on September 24th, where supporters are encouraged to dress in purple to highlight the purpura in the disease name, as well as ongoing research into the tools and education needed to further research participation.

While every condition and every patient is unique, the rare disease community is united by shared challenges: a lack of awareness; diagnosis difficulties; and potentially life-threatening obstacles to care. At ��ֳ�, we are more determined than ever to invest in research and partner with the community to spread the word about patient participation in clinical trials – with greater public awareness, more patients living with rare diseases can be involved, meaning better understanding and, in the future, potential improved treatments to improve lives.

Although living with ITP has meant an abrupt change in her lifestyle, during our discussion, she shared her hope for the future. She now works as a volunteer for PDSA and, rather than allowing the condition to define her, has been able to access the information needed to contribute to clinical discussions with informed knowledge and transparent information regarding research.

“For me it has always been important to control the ITP rather than let it control me,” she says. “I take a holistic approach to my health and have tried all sorts of disease management techniques and treatments. There are major ups and downs for anyone with this condition.”

Volunteering to participate in a clinical trial means individual care and attention is offered to the health needs of all the people involved. Clinical trials can help the community learn more about the condition and improve the chances of access to better treatment for everyone.

This week, join us in recognizing this important global awareness milestone in ITP by liking our social media posts, encouraging those living with rare diseases to share their story, and contributing to the advocacy-led conversation. You can also find more resources and ideas about how to support the global ITP community through the International ITP Alliance, PDSA and the ITP Support Associate (UK).

Thank you for your help in honoring the network of patients, caregivers, physicians, and industry partners working together to improve outcomes for those living with ITP and other rare diseases.

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Immune Thrombocytopenia Rare Disease PDSA ITP Support UK ITP Alliance ITP

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��ֳ� Celebrates Patient Strength During MG Awareness Month

eCMSadmin — Tue, 08 Jun 2021 00:00:00 +0000

��ֳ� Celebrates Patient Strength During MG Awareness Month

Donatello Crocetta, ��ֳ� Rare Disease Organization

eCMSadmin Tue 08/06/2021 - 02:00

At ��ֳ�, we are committed to developing a deep understanding of patients and their lived experiences, especially within rare diseases like myasthenia gravis (MG).

Each June, MG Awareness Month is another opportunity for us to listen and learn from people living with MG, their loved ones, advocacy organizations and healthcare providers. MG is a rare, chronic, auto-immune, neuromuscular disease associated with muscle weakness and is often referred to as the ‘snowflake’ disease. The disease differs widely from person to person, making no two journeys alike, similar to how each snowflake is unique.

Two of our MG patient ambassadors, Dale and Greg, have shared their personal stories of strength with us and their passion to not give up.

More than five years ago, Dale first started experiencing MG-related symptoms. After meeting with a neurologist who ran a series of tests, including an electromyography (EMG) and bloodwork, Dale was diagnosed with MG in 2015. Years later, Dale still experiences MG symptoms. Despite his diagnosis and having limited energy, Dale maintains a positive mindset and enjoys spending quality time with his family.

However, no two MG stories are alike. Greg’s journey with MG was very different from Dale’s. Greg first began experiencing slurred speech, another MG-related symptom, in the summer of 2002. He was then diagnosed with the condition later that year. Despite meeting with multiple doctors, Greg was left without a confirmed diagnosis. Finally, Greg was diagnosed with MG by his neurologist, and thus began a trusted 20-year relationship between doctor and patient. Although he often experiences weakness in his limbs, Greg still makes an effort to be active daily by taking walks with his dog, even if it’s just for a short distance.

It’s people like Dale and Greg who continue to fuel our ambition to further advance treatment options and support the MG patient community.

��ֳ� MG Patient Ambassadors, Dale and Greg

This June, ��ֳ� will be encouraging our employees (and their families) to design and share their most creative ‘snowflake’ interpretation. In the spirit of this year’s MG Awareness Month theme, “Turning Awareness into Action,” we will choose one winner to select an MG organization to receive a charitable donation from ��ֳ�.

��ֳ� is proud to stand with the MG patient community all year long, not just during MG Awareness Month. The ��ֳ� team has also helped connect the Myasthenia Gravis Foundation of America (MGFA) with global partners to build a larger, more diverse platform and help bring new opportunities to the community, through digital innovation, patient disease state awareness, Rare Disease Advisory Councils, and connecting industry peers. MGFA named ��ֳ� as Corporate Partner of the Year in April for these ongoing efforts in support of our shared mission to help patients and their families manage the difficulties of living with MG.

We hope you will join us in celebrating the strength and perseverance of the MG community this month.

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Myasthenia Gravis Rare Disease MGFA MG Awareness Month

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Rare Disease

Our Commitment to Advancing Treatments for TK2d

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What does the future look like for rare genetic epilepsies?

Understanding the underlying disease mechanisms

Beyond seizure control

A glimpse into the future

Leave a Comment

Embracing patient-centered research: the transformative power of partnership

Understanding the patient perspective

The power of partnership

Enhancing research through patient insights

Leave a Comment

Understanding More About the Lived Experiences of People Living with Myasthenia Gravis

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Harnessing knowledge and partnership to improve lives of people living with Myasthenia Gravis

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��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

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Understanding and recognizing the real-life impact of little understood conditions: We highlight Global ITP Awareness Week

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��ֳ� Celebrates Patient Strength During MG Awareness Month

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Rare Disease

Our Commitment to Advancing Treatments for TK2d

Leave a Comment

What does the future look like for rare genetic epilepsies?

Understanding the underlying disease mechanisms

Beyond seizure control

A glimpse into the future

Leave a Comment

Embracing patient-centered research: the transformative power of partnership

Understanding the patient perspective

The power of partnership

Enhancing research through patient insights

Leave a Comment

Understanding More About the Lived Experiences of People Living with Myasthenia Gravis

Leave a Comment

Harnessing knowledge and partnership to improve lives of people living with Myasthenia Gravis

Leave a Comment

������ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

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Understanding and recognizing the real-life impact of little understood conditions: We highlight Global ITP Awareness Week

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������ֳ� Celebrates Patient Strength During MG Awareness Month

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��ֳ�: Proud to Mark #TK2dTuesday and Recognize Challenges and Unmet Needs Faced by Families Living with TK2d

��ֳ� Celebrates Patient Strength During MG Awareness Month