Tuberous Sclerosis Complex (TSC)

Our mission: passionately work to transform the lives of those living with Tuberous Sclerosis Complex.

At Marinus, we change patients’ lives through innovative medicine and compassionate advocacy. We work to ensure that TSC patients’ stories are heard and that their quality of life is greatly improved.

What is Tuberous Sclerosis Complex?

Tuberous sclerosis complex (TSC) is a rare genetic disorder caused by inherited mutations in the TSC1 gene or TSC2 gene that can affect any or all systems of the body, resulting in non-malignant tumors in the brain, skin, kidney, heart, eyes, and lungs. The condition is a leading cause of genetic epilepsy, often occurring in the first year of life as either focal seizures or infantile spasms. While the disease phenotype can be extremely variable, neurologic manifestations such as epilepsy can be seen in up to 90% of TSC patients.

Tuberous sclerosis complex treatment options

There are currently limited disease-specific treatments approved for seizure types that occur in TSC patients. Despite these available treatments, many individuals affected by TSC continue to experience uncontrolled seizures and are in need of alternate therapeutic options. Marinus is conducting a Phase 2 open-label trial to evaluate the safety and tolerability of adjunctive ganaxolone treatment in patients with TSC.

The science behind treating TSC

There is evidence of altered neurosteroid levels in patients with TSC-associated epilepsy. In addition, Marinus-led research resulted in additional evidence of reduced levels of endogenous neurosteroids in patients with TSC when compared to age-matched unaffected subjects. Here we further expand the clinical evaluation of a potential biomarker to predict treatment response.  If successful, the utility of this biomarker could help guide additional scientifically-aligned clinical indications for ganaxolone to be studied in.

TSC occurs with a frequency of 1 in 6,000, with a mutation found in 85% of patients.

The clinical development of ganaxolone in TSC

Marinus is conducting a Phase 2, open label trial to evaluate the safety and tolerability of adjunctive ganaxolone treatment in patients with seizures associated with TSC. The trial is expected to enroll approximately 30 patients ages 2 to 65, who will undergo a four-week baseline period followed by a 12-week treatment period where they will receive up to 600 mg of ganaxolone as an oral liquid suspension three times per day. Patients who meet eligibility criteria may continue ganaxolone treatment in a 24-week extension to the trial. The primary endpoint for the trial is percent change in 28-day primary seizure frequency for the treatment period relative to baseline. We also plan to analyze allopregnanolone sulfate levels as part of the trial efficacy analysis.

Doctor Evaulating Tscs Brain Scans

Learn more about tuberous sclerosis complex

Additional educational and support resources:

TSC Alliance

Epilepsy Foundation

Links to third party sites are provided for convenience purposes only. The information contained on these sites is not information provided, controlled or monitored by Marinus Pharmaceuticals in any way. Marinus Pharmaceuticals is not responsible in any way for the accuracy, completeness, or fitness for any particular purpose of any content appearing on such sites.

Grandia Family

Patient Story:

Tuberous Sclerosis Complex: Grandia Family