Amélie Lothe, PhD, Head of Global Medical Community of Rare Epilepsies at UCB, discusses positive data on fenfluramine for the treatment of CDKL5 deficiency disorder (CDD).
CDD is a rare, genetic developmental and epileptic encephalopathy (DEE) characterized by severe early-onset seizures and significant developmental delays. CDD more commonly affects females and is caused by changes in the CDKL5 gene. Other common symptoms include movement disorders such chorea, dystonia, and stereotypical hand and leg movements, visual impairments, sleep disturbances, and gastrointestinal problems.
Dr. Lothe explains the significant burden of disease CDD has on patients, caregivers, and family. A recent caregiver survey provided insights into the symptoms patients experience and how much support they require, with 90% needing full daily support. This survey highlights the unmet needs in this population and the priority of improving quality of life.
Recently, data was announced from the GEMZ clinical trial, a phase 3, randomized, double-blind, placebo-controlled, fixed-dose, multi-center study examining the efficacy, safety, and pharmacokinetics of fenfluramine in patients with CDD who experience uncontrolled seizures. Fenfluramine is a dual-action small molecule that targets both the serotonergic and sigma-1 receptors. The trial enrolled a total of 87 patients between the ages of 1-35 years.
The primary endpoint was the median percentage change in countable motor seizure frequency between baseline and the titration plus maintenance phase. The study met this endpoint along with key secondary clinical endpoints. Full data will be presented at an upcoming scientific congress.
Additionally, fenfluramine was generally well-tolerated and the safety profile was consistent with previous studies. An open-label, flexible-dose, long-term 52-week extension phase is currently ongoing. UCB has plans to submit fenfluramine for regulatory approval as soon as possible.
For more information, click here.
To learn more CDD and other rare genetic conditions, visit https://checkrare.com/diseases/congenital-and-genetic-conditions/