It’s only 18 years since the CDKL5 Deficiency Disorder was identified by Australian researchers as an independent disorder, and while some advances have been made, there are still next to no answers for families whose children are diagnosed with the condition.
Before 2004, children with clinical features now attributed to CDD were thought to have a variant of Rett syndrome that was dominated by epileptic seizures.
The Kids Research Institute Australia disability researcher, Associate Professor Helen Leonard, played an important role in the identification of the differences that define CDD, thanks to her extensive experience researching Rett syndrome and running an Australian online database tracking Rett cases.
Since its discovery she – along with Associate Professor Jenny Downs – has been among a small clutch of global researchers championing the race to learn more about CDD and ease the burden for affected children and their families.
In 2012 the pair established the International CDKL5 Disorder Database to collect information on children and adults with the disorder and help researchers, families, advocates and treating
doctors – many of whom may only ever see one
affected patient – better understand the condition and keep up to date with the latest information.
Thanks to the online database – funded by the International CDKL5 Foundation for Research and the LouLou Foundation – researchers now realise just how rare CDD is.
Now with more than 450 children registered, it has given them an idea of case numbers, connected families who despaired of ever finding someone else who could relate to their experiences, and created a pool of willing study participants anxious to help find the breakthrough that just might transform their lives.
Associate Professor Leonard, who recently led a far-reaching review of what is known so far about CDD, published in The Lancet Neurology, says the frustrating reality for families is that, almost two decades in, there are still no reliable treatments to ease the relentless, debilitating seizures their children endure daily or weekly, depending on the severity of their condition.
“While we have made amazing progress in the clinical understanding of CDD – and a lot of that knowledge is thanks to our database – there is still so much we don’t know about many aspects of this devastating, lifelong condition,” she said.
It remains extremely difficult to treat and, even though we are keen to see more work which helps us understand the genetic aspects, the priority now is really trying to find treatments that make a difference.
“There have been some drug trials, including one which has had some success in controlling seizures which will be available in the US very soon, but there aren’t any treatments that really turn the whole disease around.
“The good thing is we know a lot more than we did, but there’s still a lot more to do.”