New drug offers hope for devastating childhood disease

April 9, 2014
This image shows a young girl who suffers from Rett syndrome. Credit: International Rett Syndrome Foundation

A powerful new drug which could relieve the symptoms of devastating childhood disease Rett syndrome is on the horizon thanks to a funding injection of £180,000.

There is currently no treatment available for the genetic disease, which leads to a range of severe health problems such as loss of muscle control, breathing irregularities, autistic-like behaviours and epilepsy.

Rett syndrome is estimated to affect 1 in 10,000 female babies, across all racial and ethnic groups worldwide.

It is a particularly devastating disease because babies appear to develop normally for the first six to 18 months of their lives, learning to walk, talk and interact. Parents are only alerted to a problem when their child's skills stop developing and they begin to regress.

Scientists at the University of Bristol have received $300,000 (£180,000) thanks to a partnership between the International Rett Syndrome Foundation and Cure Rett to test a powerful new , called NLX-101, which may have the potential to alleviate at least one of the most distressful symptoms – the breathing abnormality.

Dr Ana Abdala and Professor Julian Paton, from the School of Physiology and Pharmacology, will test NLX-101 in mouse models of Rett syndrome. The drug selectively targets one of the subtypes of serotonin receptor in the brain. This receptor participates in the control of several important brain functions for breathing and motor control.

Dr Abdala said: "This is the culmination of five years of work. Our preliminary results are robust and reliable. Critically, we understand key elements of how the drug works. This is important for translating the research from the laboratory into a clinical treatment for Rett syndrome."

Currently there is no treatment for the breathing difficulties of Rett syndrome. They are very distressful for the girls, parents and healthcare professionals, and are the main cause of emergency hospital admissions of girls with Rett syndrome.

Dr Adrian-Newman Tancredi, Chief Scientific Officer of Neurolixis, the bioscience company that holds the license for developing NLX-101, added: "We are delighted to collaborate with the research team at the University of Bristol on this exciting project. Rett syndrome is a serious neurological disorder and new treatments such as NLX-101 need to be rigorously tested in animal models before moving to the clinic."

NLX-101 has recently been granted 'orphan drug status' both in North America and in the European Union, an important milestone in delivering the drug to the patient. This is given to drugs which treat rare medical conditions and offers financial incentives to encourage development of drugs which might otherwise lack a sufficient profit motive.

Professor Julian Paton said: "Understanding how Rett syndrome affects breathing may help us understand the origins of many other respiratory diseases that currently have great public health impact like ."

In mouse models, Rett has been shown to be reversible if the faulty gene is fixed, but a cure is uncertain and may be many years away. In the meantime, there is desperate need for any drug treatment that will alleviate symptoms and improve patients' quality of life.

Explore further: Mecasermin (rh-IGF-1) treatment for Rett Syndrome is safe and well-tolerated

Related Stories

Mecasermin (rh-IGF-1) treatment for Rett Syndrome is safe and well-tolerated

March 10, 2014
The results from Boston Children's Hospital's Phase 1 human clinical trial in Rett syndrome came out today. A team of investigators successfully completed a Phase 1 clinical trial using mecasermin [recombinant human insulin-like ...

Discovery may lead to new treatment for Rett Syndrome

January 28, 2012
Researchers at Oregon Health & Science University have discovered that a molecule critical to the development and plasticity of nerve cells – brain-derived neurotrophic factor (BDNF) -- is severely lacking in brainstem ...

Setting standards for research into Rett syndrome

October 31, 2012
There is an urgent need for new drugs to treat Rett syndrome, a rare and severe neurological disease mainly affecting girls. A bottleneck in drug development for this syndrome is a lack of clarity at the level of preclinical ...

Rett syndrome gene dysfunction redefined

October 3, 2013
Whitehead Institute researchers have redefined the function of a gene whose mutation causes Rett syndrome, a neurodevelopmental autism spectrum disorder. This new research offers an improved understanding of the defects found ...

'Dark genome' is involved in Rett Syndrome

May 2, 2013
Researchers at the Epigenetics and Cancer Biology Program at IDIBELL led by Manel Esteller, ICREA researcher and professor of genetics at the University of Barcelona, have described alterations in noncoding long chain RNA ...

Recommended for you

Mind-body therapies immediately reduce unmanageable pain in hospital patients

July 25, 2017
Mindfulness training and hypnotic suggestion significantly reduced acute pain experienced by hospital patients, according to a new study published in the Journal of General Internal Medicine.

Study suggests ending opioid epidemic will take years

July 20, 2017
The question of how to stem the nation's opioid epidemic now has a major detailed response. A new study chaired by University of Virginia School of Law Professor Richard Bonnie provides extensive recommendations for curbing ...

Team-based model reduces prescription opioid use among patients with chronic pain by 40 percent

July 17, 2017
A new, team-based, primary care model is decreasing prescription opioid use among patients with chronic pain by 40 percent, according to a new study out of Boston Medical Center's Grayken Center for Addiction Medicine, which ...

Private clinics' peddling of unproven stem cell treatments is unsafe and unethical

July 7, 2017
Stem cell science is an area of medical research that continues to offer great promise. But as this week's paper in Science Translational Medicine highlights, a growing number of clinics around the globe, including in Australia, ...

Popular heartburn drugs linked to higher death risk

July 4, 2017
Popular heartburn drugs called proton pump inhibitors (PPIs) have been linked to a variety of health problems, including serious kidney damage, bone fractures and dementia. Now, a new study from Washington University School ...

Most reproductive-age women using opioids also use another substance

June 30, 2017
The majority of reproductive-age and pregnant women who use opioids for non-medical purposes also use at least one other substance, ranging from nicotine or alcohol to cocaine, according to a University of Pittsburgh Graduate ...


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.