Treatment-refractory Dravet syndrome calls for new options

Does not respond to available treatment...“drives attention to the need for new options”

Despite the introduction of medical cannabis, drug-refractory patients still exist, emphasizing the need for a better treatment environment

Despite increased treatment options, a hurdle remains in the reimbursement approval process

Doctors request the authorities’ attention to new options that can manage seizures and comorbidities

Despite increased treatment options for the ultra-rare Dravet syndrome, there are still gaps in care that require attention.

 

Even with the introduction of medical cannabis, cannabidiol, there are patients who do not respond to the drug, which is why improving access to new options should be considered.

 

Dravet syndrome is a rare neurological disorder that begins with fever and convulsions within the first year of life, persists into adulthood, and leaves nearly all young patients moderately to severely disabled after each attack.

 

Although it is known to be a rare disease with an estimated prevalence of 1 to 2 per 10,000 people worldwide, there is no officially investigated prevalence in Korea and was designated as an ultra-rare disease in 2022.  Dravet syndrome is characterized by the onset of the first seizure, which is similar to a febrile convulsion that usually occurs with fever at 6 months.

 

The biggest risk factor is “Sudden Unexpected Death in Epilepsy” (SUDEP).

 

While the rate of sudden death in intractable epilepsy is 20-25%, in Dravet syndrome, up to 59% of all deaths are associated with SUDEP.

 

The goal of treatment for Dravet syndrome is to control seizure frequency and non-seizure symptoms to reduce the patient's risk of sudden death and improve quality of life.  Initial treatment includes anti-seizure medications and add-on treatments such as the anti-seizure medications stiripentol and cannabidiol are used to treat the “drug refractory” nature of Dravet syndrome.  Cannabidiol is a medical cannabis preparation that was previously supplied without reimbursement through the Korea Orphan & Essential Drug Center for urgent use but then has been reimbursed since April 2021.

 

Hoon-Chul Kang, professor of pediatric neurology at Severance Hospital, emphasized that the government's approval of medical cannabis has contributed to improving the treatment environment for Dravet syndrome.

 

Kang said, “The government's decision was based on the desperate voices of parents and caregivers of children with Dravet syndrome, as well as objective data reported in the literature,” he explains.  Limitations remain for drug-refractory Dravet syndrome...a fundamental solution is needed However, stiripentol and cannabidiol are only available through the Korea Orphan & Essential Drug Center, and the treatment process from applying for the drugs to meeting the criteria for reimbursement coverage is rather complicated. 

Hoon-Chul Kang, professor of pediatric neurology at Severance Hospital

Hoon-Chul Kang, professor of pediatric neurology at Severance Hospital

In particular, there are still many patients with Dravet syndrome who are refractory to existing medications, leaving a blind spot in terms of seizure management.  Unlike Korea, where treatment options are limited, options are increasing overseas with the emergence of new options.

 

In the long run, experts agree that Korea also needs a fundamental treatment for seizures that reduces the quality of life for people with Dravet syndrome and their caregivers.  If a new treatment option can significantly improve seizure control while also managing additional comorbidities and disabilities, it would substantially improve the treatment landscape.  In addition, despite the limitations of being an ultra-rare disease, there are expectations that Dravet syndrome will benefit from the government's 'fast-track program for serious and rare diseases to reduce the burden of medical expenses’ plan.

 

The industry predicts that the government's interest in pediatric rare and intractable diseases will continue for the time being, given the revised pediatric drug pharmacoeconomic evaluation exemption system last year and the selection of drugs for the first pilot project for the approval-evaluation-negotiation linkage system.

 

A professor of pediatrics at a tertiary hospital said, "The government needs to make another timely decision to improve the treatment environment for Dravet syndrome, an extremely rare disease that is even more neglected than others."