A new study into a genetic condition that can cause intellectual and learning difficulties, tremors and fertility problems has opened at Leicester’s Hospitals. Fragile X Syndrome is the most common cause of inherited intellectual and learning difficulties, affecting around 1 in 1,400 males and 1 in 1,600 females* – and yet many people have never heard of it.
The study, called Reconnect, is aimed at children aged between 3 and 17 years old with a confirmed diagnosis of Fragile X Syndrome. The study will test whether a cannabinoid-based gel, with the psychedelic components removed, has an impact on regulating the behaviours and feelings of children who take part. The study is a double-blind, randomised controlled trial, which means that neither the doctor nor the participant will know whether they receive the treatment or a placebo (‘dummy’ treatment).
Chris McQuade, from Groby in Leicestershire, is a parent of three boys, two of whom live with Fragile X Syndrome. He said: “Fragile X caught our family by complete surprise. Since the diagnosis we have been working hard with the team at Leicester to raise awareness, understand the condition, identify the symptoms and build an effective holistic approach to family and patient support here in the UK.”
He continued: “I welcome this new study, which may help children with Fragile X Syndrome to better manage their emotions and behaviours. While there isn’t a cure for Fragile X Syndrome yet, it will mean so much to families if we can find treatments that help manage the symptoms, so people affected by this condition can have a better quality of life.”
Professor Julian Barwell, consultant in genetics at Leicester’s Hospitals and the lead investigator for the Reconnect study, said: “Fragile X Syndrome linked to the X chromosome and is caused by a ‘spelling mistake’ in a gene. As females have two copies of that gene, because they carry to X chromosomes, whereas males only have one copy, because they have an X and a Y chromosome, we tend to find that males are more severely affected. Some people who have Fragile X Syndrome are diagnosed with autism at the same time. Females with Fragile X can experience fertility problems or an earlier menopause.”
“If a person has learning difficulties or autism, and especially where there is a wider family history of these conditions through the female side, then a blood test can be used to confirm whether the person has Fragile X.”
Jeans for Genes Week runs from 20-25 September 2022. The annual campaign raises awareness of the daily challenges faced by those living with a genetic condition.
For more information about the study, contact the dedicated children’s research team at Leicester’s Hospitals via https://fragilexhelp.co.uk/.
For those interested in health research at Leicester’s Hospitals and who want to hear about opportunities to take part, sign up to Leicester’s Research Registry to receive regular email updates. Visit the website to join: www.leicestershospitals.nhs.uk/researchregistry