TK2d

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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More Than You Can Imagine: Shedding Light on the Burden of Rare Epilepsies

Andrea_Puletto — Mon, 10 Feb 2025 09:50:16 +0000

More Than You Can Imagine: Shedding Light on the Burden of Rare Epilepsies

Andrea Wilkinson, Global Epilepsy & Rare Syndromes

Andrea_Puletto Mon 10/02/2025 - 10:50

When we think of epilepsies, the most common thing that comes to mind is seizures. While seizures remain the hallmark symptom of DEEs (Developmental and Epileptic Encephalopathy) such as Dravet syndrome, Lennox-Gastaut syndrome and CDKL5 deficiency disorder, patients live with additional comorbidities that often go unnoticed but which have a profound and multifaceted impact on their lives. These rare conditions are associated with a host of physical, cognitive and behavioral challenges, taking a significant toll not only on individuals but also on caregivers and families, shaping every aspect of their daily lives.

With International Epilepsy Day on 10 February 2025, followed closely by Rare Disease Day on 28 February, themed ‘More than you can imagine’, it’s an opportune time to shine a light on the non-seizure burdens that these conditions are accompanied by, as well as the impact they have on both patients and their loved ones.

Looking beyond seizures

Dravet syndrome (DS), Lennox-Gastaut syndrome (LGS) and CDKL5 deficiency disorder (CDD) are all rare forms of epilepsy classified as developmental and epileptic encephalopathies (DEEs). Living with these syndromes or conditions is far more complex than managing seizures alone, involving comorbidities that impact cognitive, emotional, and physical well-being. For instance, people with DS often contend with developmental delays, communication difficulties, and mobility issues such as a crouched gait.1 LGS is associated with profound intellectual disabilities and severe behavioural challenges such as aggression or hyperactivity, and CDD can result in musculoskeletal problems like scoliosis, lack of ability to develop speech, and delays or failure to achieve both gross and fine motor skills.

These DEEs don’t end with the individual — they affect the quality of life of families and siblings, caregivers and their broader support system, causing a ripple effect that touches every facet of living.

Anxiety, constant vigilance, chronic sleep disruptions caused by night-time seizures, and the strain of navigating complex healthcare systems can leave families feeling overwhelmed. Caregivers often report high levels of emotional stress and information overload, particularly following diagnosis when their need for specialty healthcare and support is especially high. Furthermore, the unrelenting nature of evolving symptoms, compounded by frequent medical appointments and therapy sessions, can make day-to-day life exhausting and isolating.

Although people’s experiences of living with a DEE will be unique, there are some commonalities that may help to direct future research pursuits. For example, unpredictable seizure activity, irregular sleep patterns and disrupted behavior have all been reported by caregivers as negatively impacting quality of life, leading their loved ones to temporarily lose communication abilities or other activities of daily living. Gaining a better understanding of the disruptive nature of rare epilepsies, and the symptoms that matter most to patients and their families, will help researchers to prioritize areas of scientific focus and improve outcomes.

Working together to address the non-seizure burden

At ��ֳ�, we firmly believe that improving care for people living with epilepsy means addressing both seizure and non-seizure-related outcomes as well as survival of these complex conditions. This requires a holistic approach, with research that expands on current disease understanding, combined with initiatives that promote earlier diagnosis, enhance treatment innovation, and strengthen support systems. Together, we must foster greater recognition of rare epilepsies, prioritizing both medical and non-medical needs to enhance both patient and family outcomes.

‘More Than You Can Imagine’ – A theme to remember

The 2025 theme of Rare Disease Day is a timely reminder that while rare conditions like DS, LGS and CDD may be classified under the umbrella of “epilepsy”, their complexities extend far beyond seizures. Recognizing these challenges – and addressing them – could change what is often an overwhelming diagnosis into a life supported by compassionate resources and initiatives.

We invite you to help us increase understanding of the broader impacts of epilepsy. Whether it’s by engaging with advocacy organizations, supporting caregivers, or simply listening to the experiences of those affected, we can all contribute to building a world where no one feels unsupported in their epilepsy journey. Because when you look beyond seizures, you’ll find stories of resilience, expert voices longing to be heard, and an urgent need to bridge gaps in treatment and care. Together, we can inspire more comprehensive care models that look beyond seizures to encompass the broader spectrum of challenges that rare epilepsy communities face.

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neurology epilepsy TK2d

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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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��ֳ�: 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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TK2d

Our Commitment to Advancing Treatments for TK2d

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More Than You Can Imagine: Shedding Light on the Burden of Rare Epilepsies

Looking beyond seizures

Working together to address the non-seizure burden

‘More Than You Can Imagine’ – A theme to remember

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Prioritizing awareness and access for people living with a rare disease

Leave a Comment

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

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TK2d

Our Commitment to Advancing Treatments for TK2d

Leave a Comment

More Than You Can Imagine: Shedding Light on the Burden of Rare Epilepsies

Looking beyond seizures

Working together to address the non-seizure burden

‘More Than You Can Imagine’ – A theme to remember

Leave a Comment

Prioritizing awareness and access for people living with a rare disease

Leave a Comment

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

Leave a Comment

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