Rare Epilepsy Updates:  One New Drug, Two Clinical Trials, and Orphan Drug Designation


A recent article published in Globe Newswire heralded Marinus Pharmaceuticals’ new drug, ganaxolone. The drug has been studied in over 1600 patients and is now being tested in two clinical trials for the treatment of tuberous sclerosis complex (TSC) and CDKL5 deficiency disorder (CDD).

Both of these rare diseases are associated with epilepsy. The highest incidence of epilepsy is found in children under the age of five or people over the age of sixty-five. Estimates are that between fifty to sixty-five million individuals are affected by epilepsy worldwide. About one-third of these individuals are unable to find the treatment that will control their seizures.

However, the advent of next-generation sequencing (NGS) introduces a technology that has improved diagnostic techniques for epilepsy by about eighteen to forty-eight percent. These improvements will carry forward into new and effective treatments.

Tuberous Sclerosis Complex

Epilepsy is known as a group of disorders primarily caused by the interactions of many genes or environmental factors. Tuberous sclerosis complex (TSC) is a rare genetic disease characterized by benign tumors that grow on vital organs.

TSC affects the central nervous system. Symptoms include developmental delay, behavioral problems, seizures, kidney disease, and skin abnormalities. A Phase II trial that will evaluate ganaxolone in TSC is expected to begin in the first half of 2020.

 About the TSC Trial

The Marinus Phase 2 trial will be studying both tolerability and safety of ganaxolone treatment in patients whose seizures are related to TSC. The disease is one of the leading causes of genetic epilepsy. TSC generally occurs in a child’s first year with seizures resulting in a loss of consciousness or as infantile spasms.

Results from one of its earlier trials identified a potential epilepsy biomarker called Allo-S. Using this data, the company conducted a biomarker analysis in search of other genetic epilepsies.

Marinus is now moving forward with its Phase 2 study in four to six U.S. sites enrolling up to forty patients ages two to sixty-five. After four weeks of baseline evaluation, the patients will undergo twelve weeks of treatment.

The investigators are looking at the change in seizure frequency at the end of twelve weeks of treatment compared to their four-week baseline evaluation.

The Phase III Marigold Study

Ganaxolone was granted orphan drug status for the treatment of CDD. The EMA’s designation was bestowed on ganaxolone through a European Union program that encourages the development of treatments for debilitating and life-threatening rare diseases.

CDD is now being investigated in the Phase III Marigold study. Marigold will enroll approximately one hundred patients. Participants will be between two through twenty-one years of age. The primary endpoints of Marigold are to determine if oral ganaxolone can improve the behavior of CDD children and reduce their seizures.

It is a rare X-linked (on the X chromosome) genetic disorder resulting in uncontrollable seizures. The onset often occurs in an infant’s early development. Thus far, CDD has proven to be highly resistant to treatment.

To date the enrollment has been strong and the company is on track to release data in the third quarter of 2020.

Additional information about CDD is available here.


Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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