Ganaxolone approved for treatment of CDKL5 deficiency disorder

The US Food and Drug Administration has approved ganaxolone (ZTALMY; Marinus) for treatment of CDKL5 deficiency disorder (CDD), a rare form of genetic epilepsy.

In the United States, 470,000 children are afflicted with epilepsy, according to the Centers for Disease Control and Prevention. Epilepsy is one of the most common and underdiagnosed neurological diseases in the world, with some suffering hundreds of seizures a day.

CDD is 1 form of epilepsy that can have a major impact on children’s lives. Elia Pestana Knight, MD, pediatric epileptologist at the Cleveland Clinic Neurological Institute, described CDD as, “a severe developmental and epileptic encephalopathy characterized by medically refractory infantile-onset epilepsy, global developmental delay, low muscle tone, cortical visual impairment, insomnia and other sleep problems, constipation, reflux, and swallowing problems that lead to enteral tube feeding.”

Whitney Mitchell has personal experience with CDD, as her daughter Havilah was diagnosed with the disorder when she was 17 months old. Havilah experienced hundreds of seizures daily, and dozens of treatments were used to help improve her condition.

“These kids change so frequently—their abilities change, their seizures change, their sleep patterns change, and we don’t really understand the brain—the brain controls everything! So, it’s really hard to predict,”said Mitchell.

For Mitchell, a strict routine allows for control over the most important parts of their days. A routine can make thedifference on whether her child is calm or stressed throughout the day.

Recently, the US Food and Drug Administration has approved ganaxolone for treatment against CDD. Knight described the medication as an oral suspension antiseizure medication. According to Knight, ganaxolone was approved after being studied in a randomized, placebo-controlled trial, making it one of the few antiseizure medications studied in clinical trials.

Participants in the trial were positive for CDD, had used 2 prior forms of treatment with insignificant results, and had a minimum of 16 seizures per 28 days in the 2 months before the study.Ganaxolone led to a 31% median reduction in seizure frequency, compared to 7% for placebo.¹

Knight noted that when treating epilepsy, it is important to balance seizure control with adverse side effects of medication. This should lead to careful selection and treatment.

Mitchell described ganaxoloneas giving her hope. She said there is nothing more heartwarming than knowing someone is trying to support your child.

“We need the doctors,” Mitchell said. “I text Havilah’s doctor almost every day. I think as a mom of a child with a rare disease you tend to panic really easily. And to have those medical people in my corner, during those moments especially, is critical. We need the pharmaceutical companies to make the medicines our kids need not only to thrive but survive—Havilah could very likely not even be alive today if it wasn’t for some of these drugs.”

Reference

1. FDA approves drug for treatment of seizures associated with rare disease in patients two years of age and older. US Food and Drug Administration. March 28, 2022. Accessed November 4, 2022. https://www.fda.gov/drugs/news-events-human-drugs/fda-approves-drug-treatment-seizures-associated-rare-disease-patients-two-years-age-and-older