Researchers are trialling party drug ketamine as a treatment for Rett syndrome.
Led by the US Rett Syndrome Research Trust (RSRT), the study will look at the drug’s safety and effectiveness. Medics currently use it mainly as an anaesthetic.
Dr Jana von Hehn, who is directing a study looking at ketamine as a treatment for Rett syndrome
Rett syndrome is a lifelong neurological disorder that only affects girls. It is caused by random mutations in the MECP2 gene.
Medical professionals once saw the condition as part of the autism spectrum. But since scientists discovered it was rooted in a genetic mutation they now view it as a separate condition.
Symptoms in common
However, the conditions have some symptoms in common. Rett syndrome and autism can both involve a loss of skills and speech, repetitive hand movements and sleep problems.
Dr Josette Wulffaert, of Leiden University in the Netherlands, led research in 2009 on links between the syndrome and autism. It focused on 52 women and girls.
The study suggested the subjects’ “behavior indicated an autistic disorder” in 42 to 58 per cent of the women and girls.
Ketamine ‘could be helpful’
Dr Jana von Hehn is the RSRT study’s director.
She said several animal studies suggest ketamine “could be helpful for treating Rett symptoms”.
Brain networks, cell signalling and breathing problems in animal studies showed improvement, said von Hehn. Abnormal breathing patterns are a symptom of the condition.
Also, an unpublished case study on a 10-year-old girl with the syndrome suggested she experienced prolonged improvements in “a lot of her symptoms”, said von Hehn.
Breathing normally
And in a pilot study where researchers gave ketamine to four Rett patients, they began breathing normally after ten hours.
The study aims to recruit 48 patients, split into four groups of 12.
The researchers will test patients with four different doses. All the doses will be at a level below where the drug would have an anaesthetic effect.
Related:
- Gene mutation find points to treatments
- Harvard prof highlights health issues
- One in three children see regression
Published: 14 August 2019
