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Patient Resources for

Tuberous sclerosis complex (TSC)

Tuberous Sclerosis Complex (TSC) is a rare genetic disorder that affects many organs and causes non-malignant tumors in the brain, skin, kidney, heart, eyes, and lungs.

The condition is caused by inherited mutations in either the TSC1 gene or the TSC2 gene. TSC occurs with a frequency of 1:6,000 and a mutation is found in 85% of patients. While the disease phenotype can be extremely variable, neurologic manifestations such as epilepsy can be seen in up to 90% of TSC patients. TSC is a leading cause of genetic epilepsy, often occurring in the first year of life as either focal seizures or infantile spasms. There are currently limited approved treatments for TSC.

 



 

How does TSC afect the body?

TSC can affect any or all systems of the body, causing a variety of signs and symptoms. Several types of brain abnormalities may be seen in Individuals with TSC, including seizures, intellectual disability, cortical tubers, and subependymal nodules. Individuals of all ages may receive the diagnosis of TSC depending on the manifestations they have. In the majority of cases, the diagnosis of TSC comes after the start of seizures.

Where can I find more information on TSC?

You can find additional educational and support resources on TSC through the following foundations and patient advocacy groups::

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.

 

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Clinical Development of Ganaxolone in TSC

We intend to initiate a Phase 2, open label study to evaluate the safety and tolerability of adjunctive ganaxolone treatment in patients with seizures associated with TSC. Patient stratification from our PCDH19-related epilepsy Phase 2 trial identified a subpopulation of patients with improved ganaxolone responses, those with low levels of allopregnanolone-sulfate (Allo-S). Based on these data, we performed a biomarker analysis to identify other rare genetic epilepsies that may benefit from the GABAA-receptor modulatory effects of ganaxolone and identified TSC as the next planned orphan epilepsy program to study the effect of ganaxolone on seizures as well as the expanded utility of a potential biomarker.

 

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Bibliography

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