The European Commission have granted Orphan Drug Designation (ODD) to Duchenne UK for the combination of Metformin and L-Citrulline as a treatment for Duchenne Muscular Dystrophy.

Duchenne UK has been working closely with Professor Dirk Fischer at the children’s hospital (UKBB) in Basel, Switzerland, to help develop a clinical trial development plan for a further study to examine the safety and efficacy of Metformin and L-Citrulline as a treatment for DMD.

“The orphan designation marks a positive step forward in our attempts to work with partners to develop new treatments for DMD”, said Alex Johnson & Emily Crossley, co-founders and co-CEOs of Duchenne UK. “We are delighted to be able to help Professor Fischer and his team, in their tireless work to seek partners and develop new treatments for Duchenne Muscular Dystrophy."

Prof Dirk Fischer said: “The orphan designation is very helpful for our ongoing attempts to further develop this treatment to make it finally available to all patients. It is a great pleasure to work with all the highly motivated people at Duchenne UK, our research team in Basel, and all partners involved in our trials.”

Orphan Drug designations offer companies incentives and support for developing therapies for rare diseases. In The European Union the European Medicines agency (EMA) grants ODD for candidates intended for the treatment of life-threatening or chronically debilitating rare conditions with a prevalence of less than five in 10,000 in the European Union.

Duchenne muscular dystrophy is a rare, progressive muscle-wasting disease that affects approximately 1 in 3,500-5,000 boys born worldwide and is the most common fatal genetic disorder diagnosed in childhood. It is caused by the absence of the dystrophin protein, the fundamental mediator of skeletal and cardiac muscle function. 

On 17 January 2018, orphan designation (EU/3/17/1965) was granted by the European Commission to Duchenne UK, United Kingdom, for metformin and L-citrulline for the treatment of Duchenne muscular dystrophy.

How is this medicine expected to work?

This medicine contains metformin and L-citrulline. In DMD, metformin is thought to protect muscle function by increasing the action of AMP-activated protein kinase (AMPK), an enzyme that regulates the energy balance of cells, including muscle cells. L-citrulline has been shown to reduce muscle wasting. The combined actions of metformin and L-citrulline are expected to help improve muscle function and slow down the progression of the disease.

What is the stage of development of this medicine?

The effects of the medicine have been evaluated in experimental models.

At the time of submission of the application for orphan designation, clinical trials with the medicine in patients with DMD were ongoing.

At the time of submission, the medicine was not authorised anywhere in the EU for DMD or designated as an orphan medicinal product elsewhere for this condition.

Further information can be found here.

The EMA public summary of opinion on orphan designation can here found here.