In a recent press release, Knopp Biosciences announced that their drug therapy KB-3061 was granted Rare Pediatric Disease Designation to treat patients with KCNQ2 epileptic encephalopathy (KCNQ2-EE), a rare disorder causing infantile-onset seizures.
KB-3061 is an investigational drug candidate designed to activate and restore Kv7.2 and Kv7.3 potassium channels. Typically, potassium channels play a part in neurodevelopment. However, in patients with KCNQ2-EE, gene mutations prevent these channels from working effectively. So far, researchers determined that KB-3061 can benefit and restore this function, allowing for better neurodevelopment.
As a result, the therapy received Rare Pediatric Disease Designation. According to the FDA, a rare pediatric disease is:
a serious or life-threatening disease in which the serious or life-threatening manifestations primarily affect individuals aged from birth to 18 years, including age groups often called neonates, infants, children, and adolescents. A rare disease or condition [is] any disease or condition that affects less than 200,000 persons in the U.S. or affects more than 200,000 [and] for which there is no reasonable expectation that the cost of developing and making available a drug will be recovered from sales.
Once a drug receives this designation, the developers also receive regulatory incentive to help develop and market the drug.
KCNQ2 epileptic encephalopathy (KCNQ2-EE) is a rare disorder which results in infantile-onset seizures. Caused by KCNQ2 gene mutations on chromosome 20, KCNQ2-EE leads to seizures within 1 week of birth. Interestingly, researchers first discovered the genetic mutation in 1988. Later, in 2011, doctors began testing patients for KCNQ2-EE.
Researchers believe that the condition affects both males and females equally. Although seizures may last for years, many patients experience remission, or complete resolving of symptoms. However, in more severe cases, patients may experience loss of motor function or cognitive, social, and language-based developmental impairment.
- Body stiffening
- Frequent, therapy-resistant seizures
- Changes in heart rate or breathing
- Neurological and developmental delays
- Loss of consciousness
Learn more about KCNQ2-EE here.