Phase 2 Trial Data Available on Ganaxolone for TSC


According to an August 17, 2021 news release from pharmaceutical company Marinus Pharmaceuticals, Inc. (“Marinus”), data is available from a Phase 2 clinical trial evaluating oral ganaxolone for patients with tuberous sclerosis complex (TSC). During the trial, researchers sought to understand how the treatment reduced TSC-associated seizures. Ultimately, the trial highlighted how oral ganaxolone, used as an adjunctive therapy, reduced TSC-associated seizures by a median 16.6%. 

Tuberous Sclerosis Complex (TSC)

Tuberous sclerosis complex (TSC) is a rare genetic disease resulting from TSC1 or TSC2 gene mutations. Overall, these mutations fail to control cell growth. As a result, cells multiply rapidly, causing patients to develop benign tumors or lesions which can appear on the brain, kidneys, heart, lungs, or skin. Generally, symptoms appear in infancy and early childhood. Outside of the tumors or lesions, which are the most common TSC characteristic, additional symptoms include: 

  • Seizures
  • Anemia (low red blood cell count)
  • Developmental delays
  • Behavioral issues, such as hyperactivity, irritability, or repeated behaviors
  • Skin abnormalities, including thickened skin, nail growths, or light skin patches
  • Heart, kidney, and lung function problems
  • Shortness of breath


So what exactly is ganaxolone? According to Marinus, ganaxolone is an investigational: 

GABAA receptor modulator that acts by regulating brain activity. This process can include inhibiting the abnormal electrical discharges that cause seizures and status epilepticus or restoring balance in disrupted neuronal activity in other CNS disorders.

It is being developed in both intravenous (IV) and oral formulations. Marinus believes that ganaxolone could be used for treatment-resistant seizures. Because an estimated 85-90% of those with TSC have seizures, and many are treatment-resistant, this therapy offers the potential to fill an unmet need within this realm. Ganaxolone also received Orphan Drug designation from the FDA. 

The Trial

Altogether, 23 patients enrolled in the Phase 2 CALM clinical trial. Patients were between the ages of 2-32. During the trial, patients received up to 600mg ganaxolone 3x daily over an initial 4-week period and 12-week treatment period. The trial sought to understand how oral ganaxolone reduced seizure frequency over the 12-week period compared to the initial 4. Findings from the trial include:

  • There was a median 16.6% reduction in seizure frequency. However, altogether, 30.4% of patients (7 patients) reduced their seizure frequency by half. 
  • In patients with focal seizures, oral ganaxolone reduced seizure frequency by 25.2%.
  • Ganaxolone was relatively safe and well-tolerated, with drowsiness reported as the most common side effect.
Jessica Lynn

Jessica Lynn

Jessica Lynn has an educational background in writing and marketing. She firmly believes in the power of writing in amplifying voices, and looks forward to doing so for the rare disease community.

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