KCNQ2 epileptic encephalopathies is a serious type of neonatal epileptic condition which manifests in newborn children during the first week if their lives. This disease is being addressed by various pharmaceutical companies across the globe trying their best to find an effective as well as cost efficient drug for treatment.

Knopp Biosciences LLC, a drug discovery and development firm specializing in researching therapies to treat neurological disorders, recently reported outcomes of preclinical experiments showcasing that KB-3061, a leading molecule in the ion channel platform of company, restored Kv7 potassium channels’ function in cells that were engineered to express the gene variants which cause KCNQ2 epileptic encephalopathy, commonly referred to as KCNQ2-EE, a rare neonatal disease.

The Chief Executive Officer of Knopp, Michael Bozik, M.D., presented the data at Epilepsy Precision Medicine Conference which was conducted between Sept. 16-17 in Washington. D.C. Bozik’s presentation included preclinical observations from experiments that took place in collaboration with the Associate Professor of Neurosciences, Neurology and Molecular & Human Genetics in the Baylor College of Medicine, Edward C. Cooper, M.D., Ph.D.

These experiments expand the pharmacology earlier reported for KB-3061, including the invitro nanomolar activity of molecule in wild type Kv7.2 or Kv7.3 potassium channels.

Dr. Bozik further added that cells that are transfected to stimulate three missense mutations that are highly-recurrent to the KCNQ2 gene showcased strong function suppression, as measured by significantly decreased potassium current in the mutated Kv7.2 channels.

When it was treated with KB-3061, the mutated channels functioning was fully restored, they were producing regular Kv7.2 channel current density.

Knopp is enhancing the KB-3061 development as potential precision medicine to treat KCNQ2-EE, a neonatal, genetically-defined disease that is linked with seizures starting after birth as well as profound developmental delay. This disease happens due to dominant-negative mutations present in KCNQ2 gene, which creates a potassium channel, Kv7.2, which is crucial for to early brain development.

Dr. Bozik stated that the data generated in cooperation with Dr. Cooper supports the approach of precision medical to KCNQ2-EE. Bozik added that the outcomes suggest that restoring back suppressed channel activity of Kv7.2 may improve the dysfunction caused due to the KCNQ2 gene mutations.

Earlier in May, Knopp presented positive preclinical outcomes of Neonatal Epilepsy Drug candidate for KCNQ2-neonatal epileptic encephalopathy at the Antiepileptic Drug and Device Trials XV Conference.

Source credit: https://knoppbio.com/news-and-events/knopp-biosciences-reports-data-demonstrating-restoration-of-function-by-kb-3061-in-cellular-model-of-gene-variants-causing-kcnq2-epileptic-encephalopathy