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REMEDi4ALL helping to refocus an existing experimental drug to treat rare childhoold epilepsies

By 1 December 2025December 3rd, 2025No Comments

A multinational research team called TREATKCNQ is working closely together with patient families and advocacy groups including KCNQ2 Cure and KCNQ2 e.V. to repurpose an existing experimental drug as a promising treatment for KCNQ2 Developmental and Epileptic Encephalopathy (KCNQ2-DEE). This rare disorder can cause severe epileptic seizures from the first days of life and lead to devasting developmental delays that challenge the everyday lives of children and their families.

The patient experience 

Aila and Oliver Coulmann know too well the reality of living with KCNQ-DEE as their daughter, Nora, was diagnosed with the condition shortly after birth. Since diagnosis, Nora has faced many difficulties including frequent seizures, severe hypotonia and significant developmental delays. Despite this, Nora’s parents Aila and Oliver talk of her impressive strength and resilience every day. The Coulmanns, alongside other families have established crucial networks for advocacy and support, ensuring that their priorities and needs are at the forefront of new research and therapeutic avenues. 

Genetic basis of disease and promise of treatment 

KCNQ2-DEE arises from mutations in potassium ion channels that disrupt the generation and transmission of electrical signals in and between neurons which are critical for brain development and function.  

Children living with KCNQ2-DEE are often minimally responsive to conventional anti-seizure medications. To address this urgent unmet medical need, the multidisciplinary TREATKCNQ consortium, funded by the European Joint Programme on Rare Diseases (EJPRD) Joint Transnational Call 2020, is working to identify and evaluate novel treatment options based on better understanding of how KCNQ2 gene mutations cause disease.
 
New findings: a repurposed therapy on the horizon   

In an article published this month in the British Journal of Pharmacology, TREATKCNQ researchers report identification of an existing experimental drug called  JNJ-37822681 that reverses a key deficit in brain cell function caused by KCNQ2 gene mutations. The researchers further showed that this drug molecule rescues seizure activity in cells donated by patients and in gold-standard models for epilepsy.

Importantly, the path to clinic for this advanced-stage experimental drug could be substantially accelerated by taking advantage of existing data on its dosing and safety in humans, and of manufacturing processes that have already been established to support its regulatory approval.   

For families, these advances bring tangible hope, driven by patient-centred research. Aila and Oliver Coulmann, Nora’s parents say “This discovery brings us a big step closer to a much-needed drug for children like ours.”

The missing piece: clinical trial results 

The key next step leading to clinical trial testing will be for TREATKCNQ researchers to be able to reference previous clinical trial reports that have already been assembled for JNJ-37822681. These reports from a decade ago are held by the company who originally developed the molecule who has since ceased all further commercial development of the drug. Access to these legacy data would save years and substantial costs which otherwise would have to be committed to repeat these already existing studies.  Publication authors say: “We urgently need access to clinical data from previous studies with JNJ-37822681 to support further development and to design safe and efficient studies to test the drug’s potential in children with KCNQ2-DEE”.

For families like Nora’s, the TREATKCNQ project gives real hope.  “Every bit of progress in this field means a chance for a better quality of life — not only for our daughter but for all children affected by this devastating condition”. say Aila and Oliver Coulmann.

The REMEDi4ALL drug repurposing Concierge  


REMEDi4ALL is committed to helping to drive projects like TREATKCNQ forward towards to regulatory approvals and patient benefit. Repurposing of approved drugs and drug candidates which have already been shown to be safe can augment the development of new drugs for unmet medical needs, including for the thousands of rare diseases like KCNQ-DEE for which no effective therapies currently exist. By advising projects like TREATKCNQ2, the REMEDi4ALL Consortium, funded by a €25M grant from the European Commission under the Horizon Europe Programme, aims to facilitate a new generation of high quality, rigorous and patient-driven drug repurposing efforts across Europe. 

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