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At Cure PDE Foundation, we are on a mission to empower and unite families affected by pyridoxine-dependent epilepsy (PDE) and advance research to find a cure.
At Cure PDE Foundation, we are on a mission to empower and unite
families affected by pyridoxine-dependent epilepsy (PDE)
and advance research to find a cure.
Title
Learn about PDE
Empowering families
and igniting possibilities
Empowering families and
igniting possibilities
our mission
Living with a rare disease is full of anxiety and uncertainty. Our primary goal is to provide a place where someone else understands what you are going through.
community & Events
Whether it's funding research, advocating for better testing, or creating a strong community where hope thrives, we stand together as a force of change. With CurePDE, you'll find the support and resources needed to face PDE with courage, strength, and the knowledge that you are not alone in this journey.
But sometimes, you want to be empowered to do more:
At Cure PDE, we understand the challenges of living with pyridoxine-dependent epilepsy (PDE).
Empowering Hope, Uniting Families, and Advancing Research
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
Scientists used patient-derived cells to model pyridoxine-dependent epilepsy (PDE-ALDH7A1) and found that dialing down an upstream enzyme (AASS) eased several stress signals in the cells, pointing to a potential new therapy direction.
A mouse study tested whether inhibiting AASS (an enzyme upstream of ALDH7A1) can reduce multiple PDE-related metabolites in brain and other tissues, offering proof-of-principle for a new treatment strategy.
A case report from Indonesia highlights how difficult it can be to recognize and manage PDE when testing and specialist resources are limited, and it points toward practical needs that could shorten time-to-diagnosis.
A neonatal case report describes early seizures with relapse and an eventual genetic confirmation of PDE-ALDH7A1, underscoring how quickly the early window can be missed without targeted suspicion. PDE is classically described as seizures that do not respond well to typical anti-seizure medications but can respond dramatically to pharmacologic doses of pyridoxine (vitamin B6). The […]
A genetics case report describes a child with long-standing pyridoxine-dependent seizures but no diagnosis on standard exome testing, later showing complex structural changes on deeper genome analysis.
A commentary highlights antisense oligonucleotides (AONs) targeting AASS, aiming to reduce the buildup of toxic lysine-pathway metabolites that drive pyridoxine-dependent epilepsy (PDE-ALDH7A1).
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
Scientists used patient-derived cells to model pyridoxine-dependent epilepsy (PDE-ALDH7A1) and found that dialing down an upstream enzyme (AASS) eased several stress signals in the cells, pointing to a potential new therapy direction.
A mouse study tested whether inhibiting AASS (an enzyme upstream of ALDH7A1) can reduce multiple PDE-related metabolites in brain and other tissues, offering proof-of-principle for a new treatment strategy.
Meet Andre
meet the Cure pde founders
Creating a Community for Pyridoxine-Dependent Epilepsy
At CurePDE, we are on a mission to empower and unite families affected by pyridoxine-dependent epilepsy (PDE). We strive to advance research, unlock knowledge, and foster a supportive community where hope thrives. Together, we believe in a future where effective treatments and a cure for PDE are within reach. Join us as we stand strong, hand in hand, empowering each other to create a brighter tomorrow for everyone impacted by PDE.
Read more about Cure PDE Founders
read andre's story
Meet Andre
Our story began on 17 July 2011. My son Andre was born at Cedars-Sinai Medical Center, Los Angeles, CA. My pregnancy was unremarkable as my doctor never saw any problem with the health of Andre and myself.
"A chain of different specialists visited Andre during the next two weeks but none had been able to recognize a pyridoxine deficiency."
Learn about PDE
Our blog is a warm and welcoming space where families touched by PDE can freely share their unique journeys, experiences, and triumphs, believing that every story holds the power to inspire, educate, and unite.
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