Until recently, patients with cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) did not have an FDA-approved treatment option. This all changed when the regulatory agency granted approval to ZTALMY, also known by the generic name ganaxolone. Now, CDD patients two years of age and older will finally have a therapy, and access is expected to begin through a specialty pharmacy in July of this year.
First, let’s discuss what CDD is. This rare, genetic form of epilepsy is extremely rare, with around 1,000 cases reported throughout the world. Symptoms begin during infancy, and they are characterized by treatment-resistant seizures and severe developmental delay. Patients experience intellectual disabilities, limited or no speech, a delay in the development of gross motor skills, issues with fine motor skills, teeth grinding, speech disruptions, GI issues, repetitive hand movements, feeding difficulties, irregular breathing, and distinctive facial features. Scoliosis, microcephaly, and tapered fingers are other possible symptoms as well.
All of these symptoms are the result of a mutated CDKL5 gene, which holds the instructions for a protein needed for brain development and function. More research is necessary to gain a better understanding of this gene and its relation to the specific symptoms, but medical professionals know that it is inherited in an X-linked dominant pattern. Because of this, females account for about 90% of cases. It’s important to mention that this mutation can occur sporadically as well.
ZTALMY Approved for CDD
Marinus Pharmaceuticals has developed ZTALMY for CDD patients two years and older. It is a:
“neuroactive steroid that acts as a positive allosteric modulator of the GABAA receptor.”
Approval hinged on information learned during the Phase 3 Marigold trial, which was placebo-controlled, double-blind, and enrolled 101 patients. Researchers focused on the reduction in 28-day major motor seizure frequency. Results of this trial include:
- A median reduction of 30.7% in 28-day major motor seizure frequency
- This percentage was only 6.9% for those in the placebo group
- The long-term study (lasting at least 12 months) confirmed this, as there was a median reduction in major motor seizure frequency of 49.6%
- Safety, tolerability, and efficacy were all established within the trials
- The most common adverse events were salivary hypersecretion, pyrexia, seasonal allergies, and somnolence
Throughout development, ZTALMY has produced positive data that has earned it the Rare Pediatric Disease and Orphan Drug designations. Now that it is officially approved, the U.S. Drug Enforcement Agency (DEA) has to schedule, and patients should be able to access the treatment by July. To aid with access, Marinus will also be providing The ZTALMY One™ Program.
Learn more with the source article.