Study suggests epilepsy drug can be used to treat form of dwarfism

September 19, 2017
Generalized 3 Hz spike and wave discharges in a child with childhood absence epilepsy. Credit: Wikipedia.

A drug used to treat conditions such as epilepsy has been shown in lab tests at The University of Manchester to significantly improve bone growth impaired by a form of dwarfism.

Metaphyseal chondrodysplasia type Schmid (MCDS), is a genetic condition caused by mutations in 'collagen X' which affect and .

The team are from The University of Manchester, Murdoch Children's Research Institute, Australia, and the Institute of Genetic Medicine, Newcastle University.

MCDS leads to skeletal dysplasia, commonly referred to as dwarfism, where patients are often short in stature with unusual limb proportions. There is no current treatment.

The research team discovered in lab and mouse studies that the drug carbamazepine, already approved for treating conditions such as epilepsy and bi-polar disease, can significantly reduce the effects of MCDS.

And that has opened up the possibility of human trials which, will take place at the end of this year.

Professor Ray Boot-Handford, a biochemist who led the study at The University of Manchester, said: "Carbamazepine is an inexpensive drug which has been used to treat conditions such as epilepsy and bi-polar disease for decades.

"So the possibility that it may be effective in MCDS is exciting and needs to explored further."

He added: "The indication from this study is that Carbamazepine might work in a number of other conditions where the same process involving mutant protein accumulation takes place.

"But clearly, the next stage is to test it in humans."

In the study, three weeks of treatment with carbamazepine resulted in significant increases in the rates of long bone growth, compared to untreated mice.

There was also a reduction in hip dysplasia or misalignment, a common feature of MCDS.

The researchers believe the effect occurs as the drug degrades the mutant forms of Collagen X.

This reduces stress on cells which in turn improves their ability to differentiate – improving growth.

Professor Michael Briggs, from Newcastle University, said: "The concept of going so quickly from pre-clinical data to orphan drug designation to a clinical trial is incredible.

"It exemplifies the power of drug repurposing for rare disease: there has been no involvement of big pharma and this inexpensive has had a great safety record since the 1950s."

The paper "Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism," is published in the Journal of Clinical Investigation.

Explore further: One-a-day anti-seizure drug shows promise for people with epilepsy

More information: Lorna A. Mullan et al. Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism, Journal of Clinical Investigation (2017). DOI: 10.1172/JCI93094

Related Stories

One-a-day anti-seizure drug shows promise for people with epilepsy

April 14, 2016
(HealthDay)—A once-daily epilepsy drug may control seizures just as well as a twice-daily drug, researchers report.

Decoy FGFR3 protein appears to prevent dwarfism in mice

September 24, 2013
(Medical Xpress)—A team made up of researchers from several institutions in France has found that a decoy protein injected into mice, appears to prevent the development of dwarfism. In their paper published in the journal ...

Link found between epilepsy drugs and birth defects

November 29, 2016
A joint study conducted by researchers from the universities of Liverpool and Manchester has found a link between birth defects and certain types of epilepsy medication.

Anti-epilepsy drugs can cause inflammations

December 19, 2013
Physicians at the Ruhr-Universität Bochum (RUB) have been investigating if established anti-epilepsy drugs have anti-inflammatory or pro-inflammatory properties – an effect for which these pharmaceutical agents are not ...

Recommended for you

Engineered protein treatment found to reduce obesity in mice, rats and primates

October 19, 2017
(Medical Xpress)—A team of researchers with pharmaceutical company Amgen Inc. report that an engineered version of a protein naturally found in the body caused test mice, rats and cynomolgus monkeys to lose weight. In their ...

New procedure enables cultivation of human brain sections in the petri dish

October 19, 2017
Researchers at the University of Tübingen have become the first to keep human brain tissue alive outside the body for several weeks. The researchers, headed by Dr. Niklas Schwarz, Dr. Henner Koch and Dr. Thomas Wuttke at ...

Cancer drug found to offer promising results in treating sepsis in test mice

October 19, 2017
(Medical Xpress)—A combined team of researchers from China and the U.S. has found that a drug commonly used to treat lung cancer in humans offers a degree of protection against sepsis in test mice. In their paper published ...

Tracing cell death pathway points to drug targets for brain damage, kidney injury, asthma

October 19, 2017
University of Pittsburgh scientists are unlocking the complexities of a recently discovered cell death process that plays a key role in health and disease, and new findings link their discovery to asthma, kidney injury and ...

Study reveals key molecular link in major cell growth pathway

October 19, 2017
A team of scientists led by Whitehead Institute has uncovered a surprising molecular link that connects how cells regulate growth with how they sense and make available the nutrients required for growth. Their work, which ...

Inflammation trains the skin to heal faster

October 18, 2017
Scars may fade, but the skin remembers. New research from The Rockefeller University reveals that wounds or other harmful, inflammation-provoking experiences impart long-lasting memories to stem cells residing in the skin, ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.