By Dr. Femida Gwadry-Sridhar
It is astounding when you think about rare diseases and then you hear about rare epilepsies. Sadly, they are really not that rare in the larger scheme of things and most of the people who suffer from a rare epilepsy are children. Receiving a rare epilepsy diagnosis is frightening for any parent.
Misconceptions about Epilepsy
When we think about epilepsy, sometimes we think about a single condition. Epilepsy is not a single condition. There are so many different types of epilepsy that it is actually sometimes really hard to identify the type of epilepsy that a person may have, especially with children. As most of us are not trained in distinguishing different types of epilepsy, there is a tremendous burden on the community, parents, and carers to try to sort this out.
At Pulse Infoframe, we learned about these challenges firsthand when we were building the CDKL5 Rare Disease Registry. CDKL5 deficiency disorder (CDD) is a rare genetic epilepsy disorder that causes seizures, developmental delay, and severe intellectual disability. And regrettably, unless the child is diagnosed early, it is really a struggle for parents to develop a strategy for managing these epilepsies.
This is because seizures caused by CDD do not respond to treatments that would normally work in epilepsies that are unrelated to rare diseases. The seizures typically begin within a few months after birth, and because they are difficult to control with single medications, a combination approach with diet is often used to manage them. Sadly, there is currently no cure.
How a Patient Registry Attracted More Research
Imagine a child having one to five seizures every day and healthcare practitioners asking parents to try to identify these seizures, and then, most importantly, expecting parents to try to cope with the situation. I use this as a case study because, when we were first building the CDKL5 Registry, there was only one drug that was under development in clinical trial.
But given the interest from the patient community and the strong support of some of the advocacy groups who were involved in CDKL5, such as the Loulou Foundation and the Orphan Disease Center at UPenn, this became a critical turning point for the community. With the support of the key opinion leaders (KOLs), as well as the foundations, more and more pharmaceutical and biotech companies became interested in looking at therapeutic innovation in this area.
Today, five companies are collaborating together to determine what the best endpoints (clinical benefits) are in this particular condition representing “rare epilepsy.”
The Reason a Patient Registry Attracted More Research
So, why is this important? Because without understanding the types of outcomes and endpoints that are going to be important from a regulatory perspective, it is really hard to get approval for new drugs, especially because they tend to be more expensive than existing drugs that are on the market.
Therefore, as we look at the collective of childhood epilepsies or rare genetic epilepsies that include conditions such as Dravet Syndrome, Ring20 Syndrome and others, I think it behooves us to determine how best these different patient groups can collaborate.
What we do not know and are trying to understand is the common biomarkers in these populations, and whether there are opportunities for smaller molecules in gene therapy to work across multiple conditions, or whether they are restricted to a single condition.
Sharing Data to Benefit Several Rare Epilepsies
Given the heterogeneity of the seizures and the trajectory of the patients and their natural history, it creates, I believe, a real opportunity for people to work together and share data. That was really one of the driving forces behind why we created an initiative called Rare CentralTM.
The concept is based on there being a central meeting place essentially for patients with particular conditions, such as a rare epilepsy, who could learn from one another and share knowledge with one another. As we think about rare epileptic conditions and rare epilepsies, I think that we should open our minds to really determine how we can advance and accelerate treatments.We can achieve this by 1) better understanding the natural history of the disease, and 2) by being able to look across different rare epilepsies so that we can look at commonalities and differences that may be utilized to help focus the lens on some of the new drug development that is being explored.
