Treatment for a rare disorder that causes extra fingers and toes may have been discovered. The rare condition causes babies to be born with extra fingers and toes along with several other birth defects, a large head circumference, and autism. Currently, there is no treatment.
However, new research by the University of Leeds has found a molecule that could be used to treat neurological symptoms and prevent any worsening of the patient’s condition. The drug discovered is already in clinical trials to treat another disorder, so if it works in reversing mutations then the treatment could be on offer in no time.
“Currently there are no treatments for these patients,” said Dr. James Poulter, Leeds University Academic Fellow in Molecular Neuroscience. “This means that our research into rare conditions is not only important to help us understand them better, but also to identify potential ways to treat them.
“In this case, we found a drug that is already in clinical trials for another disorder – meaning we could fast-track this for these patients if our research finds the drug reverses some of the effects of the mutation.
“It also means that other patients with a similar combination of features can be tested to see if they have the same variant we have identified in our study.” The study team noted the importance of research into rare diseases as it gives understanding and hope of treatment to families who often face many years of uncertainty about their child’s condition and prognosis.
Dr. Poulter added: “These are often under-represented conditions that have a huge impact on patients and their families. “These families go through a long and complex diagnostic odyssey. The time from their first doctor’s visit as babies to getting a diagnosis can take more than 10 years.
“It is important that these patients and their families discover the cause of their condition – and if they can access a therapy based on their genetic diagnosis, that could be life-changing.”
The condition is caused by a genetic mutation in a gene called MAX, which was identified for the first time in a study, published in the American Journal of Human Genetics. The paper focuses on three individuals with a rare combination of physical traits, namely extra digits and a much larger-than-average head circumference.
The individuals also share some other characteristics, including delayed development of their eyes which results in problems with their vision early in life. The researchers compared the DNA of these individuals and found they all carried the shared genetic mutation causing their birth defects.
Dr. Pierre Lavigne, from Université de Sherbrooke in Canada, said: “Finding out the impact of the mutation on the function of MAX is the first step towards the development of a treatment for these children.”
The researchers now plan to look for additional patients with mutations in MAX to better understand the disorder and investigate whether the potential treatment improves the symptoms caused by the mutation.
This study used data from the Deciphering Developmental Disorders study (DDD).
Professor Helen Firth, of Cambridge University, added: “The DDD study recruited across the UK from 2011-2015. It’s exciting that in 2024, we’re still making new discoveries.
“This new finding is a diagnosis for our DDD patients. Furthermore, this publication will now enable other children worldwide to be diagnosed with this novel disorder.”
Produced in association with SWNS Talker
