Our core values

 CurePDE fosters a sense of hope and optimism for a future where PDE is better understood, effectively treated, and eventually cured. The foundation's actions and initiatives are driven by the belief that progress can be made, and better outcomes are possible for the PDE community. 

CurePDE operates with integrity, transparency, and accountability in all its endeavors. The foundation upholds the highest ethical standards in its interactions with donors, partners, and the PDE community, ensuring that resources are used effectively to achieve its mission.


CurePDE embraces innovation and a forward-thinking approach in its research and support efforts. The foundation seeks new approaches, collaborations, and opportunities to drive advancements in PDE research and care. 

CurePDE believes in empowering the PDE community by providing them with knowledge, resources, and a sense of agency in managing their condition. We aim to equip individuals and families with the tools to make informed decisions and actively participate in their healthcare journey. 

CurePDE values the power of collaboration and partnerships. By working together with researchers, advocacy groups, and other stakeholders, the foundation aims to accelerate research efforts, promote awareness, and improve outcomes for individuals with PDE.


innovation

hope

integrity

collaboration

compassion

empowerment

CurePDE is built on a foundation of compassion and empathy for individuals living with PDE and their families. The foundation recognizes the unique challenges they face and strives to provide understanding, support, and care in all its interactions. 

Defining Pyridoxine-Dependent Epilepsy & The Role of Pyridoxine (Vitamin B6)

PDE is usually manageable. The primary and most effective current first line of therapy for PDE is pyridoxine (B6) supplementation.

Treatment

Seizures

Diagnosis

Pyridoxine-Dependent Epilepsy, often abbreviated as PDE, is an extremely rare genetic disorder that affects the brain's electrical activity, leading to seizures. This condition is classified as an inborn error of metabolism, meaning it is present from birth due to a genetic mutation.

The key player in PDE therapy is pyridoxine, also known as vitamin B6. Pyridoxine plays a vital role in various metabolic processes in the body, including the synthesis of neurotransmitters in the brain. In individuals with PDE, a specific genetic mutation in a gene commonly referred to as antiquitin (ATQ) which contributes to a number of biological pathways which we will discuss later, but effectively forces the reduction of B6 in the system. It is important to note that PDE is not the only epilepsy that responds to vitamin B6 treatment.



The deficiency of pyridoxine in PDE patients can result in recurrent seizures, which typically start in the first few days or weeks of life.


Diagnosing PDE often involves a combination of clinical observations, genetic testing, and specialized metabolic testing.

learn more about pde

Our goal at CurePDE is to provide information on the latest research on the scientific aspects of PDE and the biotechnological innovations used to address rare genetic diseases. We also believe it is important to translate this information into something we can all understand and benefit from, so we aim to summarize it in a friendly way. If you would like to discuss these publications in more scientific depth, please reach out; we would be happy to do that as well.







Stay up to date with the latest research

Dr. Houten’s work on substrate reduction therapy for GA1 and its implications for related pathways such as PDE offers a glimpse into the future of treatment for rare genetic disorders.

We are thrilled to extend a warm invitation to all of you for an upcoming Zoom meeting designed to bring us closer together.

We’re excited to share a unique opportunity for you to contribute directly to the future of PDE research.

Big news – we’re hosting our FIRST webinar on Pyridoxine-Dependent Epilepsy (PDE) research on January 25th, and you’re invited!

This blog post introduces the CHARLIE Consortium, a group of researchers dedicated to studying Pyridoxine-Dependent Epilepsy (PDE).

Here we highlight some talks that have been given by Dr. Philip Pearl who is affiliated with Boston Children’s Hospital; William G. Lennox Chair and Professor of Neurology
Harvard Medical School. These talks are hosted through ICNA.

Our goal at CurePDE is to provide information on the latest research on the scientific aspects of PDE and the biotechnological innovations used to address rare genetic diseases. We also believe it is important to translate this information into something we can all understand and benefit from, so we aim to summarize it in a friendly way. If you would like to discuss these publications in more scientific depth, please reach out; we would be happy to do that as well.







Stay up to date with the latest research

Dr. Houten’s work on substrate reduction therapy for GA1 and its implications for related pathways such as PDE offers a glimpse into the future of treatment for rare genetic disorders.

We are thrilled to extend a warm invitation to all of you for an upcoming Zoom meeting designed to bring us closer together.

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