Cardiff and Vale UHB lead UK arm of global trial for treatment of rare genetic condition in the womb
Cardiff and Vale University Health Board is the sole site in the UK for an international clinical trial that could improve treatment options for patients affected by a rare and life-threatening genetic condition. It does this by treating the affected baby while still in the womb.
X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) causes symptoms such as missing or abnormal teeth, sparse or thin hair and a lack of sweat glands, which increases the risk of overheating and life-threatening complications. It is caused by an alteration on the X chromosome and, while both men and women can pass XLHED to their children, the condition principally affects boys.
There are no curative treatments for XLHED, but a global clinical trial, the Study for Pregnant Women Expecting an Ectodermal Dysplasia Affected Boy (Edelife), is researching a new treatment that is designed to replace the missing protein and is administered during pregnancy at key developmental stages. If successful, the study could lead to improvements in treatment options.
There are 10 centres across Europe and the US taking part and the University Hospital of Wales is the only centre in the UK, reflecting Wales’s ambition to become a world leader in genomics.
Professor Angus Clarke, Clinical Geneticist and Principal Investigator for the trial in Cardiff, said: “I have a long-standing involvement with this research. I was involved before the gene was identified and have worked with a lot of families in the UK to look at how the condition affects them.
“XLHED is rare, it’s estimated to affect perhaps three in every 100,000 newborns. It restricts physical activity and, especially for young children, it can be life-threatening. The lack of glands producing sweat and mucus is the primary cause of mortality in young children who are affected, and the lack of sweat has a huge impact on daily life. Learning more about potential treatments that could improve the quality of life for patients is exciting.”
Dr Arveen Kamath, Consultant Clinical Geneticist and Sub-Investigator, added: Participating in this ground-breaking treatment trial as a sub-investigator with Professor Clarke has been both a humbling and exciting experience. I was initially involved with the postnatal clinical trial recruiting boys affected by the condition and the study has now expanded to include pregnant women carrying affected boys, marking a significant milestone in medical research.
“Being part of this trial has allowed us to witness first-hand the potential of innovative treatments and the profound impact they can have on families. We are proud to be part of this important work, which could ultimately improve lives and offer new hope to those affected by this condition.”
Co-ordinated by Bethan Phillips, a research nurse at the Children and Young Adults’ Research Unit, the study brings together a multidisciplinary team of specialists from fetal medicine, genetics, paediatrics and midwifery.
Dr Bryan Beattie, Clinical Lead for Fetal Medicine in Wales, said: “In Cardiff, we’re fortunate to have a strong multidisciplinary approach to patient care and research which enables specialists from different fields to easily come together and share their expertise. This means the Health Board is well positioned to support clinical trials such as Edelife.”
As XLHED runs in families, one of the participants in Cardiff, a 32-year-old mum, grew up with two brothers who both had the condition, and she saw first-hand the challenges they faced. These included severe asthma, limited physical activity and difficulty eating due to missing teeth and salivary glands.
However, her decision to participate wasn’t just about giving her son a chance to live without limitations — it was about creating a future where children with XLHED can thrive.
She said: “When you can’t sweat, your body can’t regulate heat properly which means you only have 10 minutes of exercise before you have to stop. That’s not the life I wanted for him, I want him to have equal opportunities and not be limited.”
Through the trial, she was able to receive treatment that could have the potential to help her son and contribute to valuable research which is key in advancing treatment for genetic conditions.
She said: “Research is so important because it can change lives, sometimes in ways we can’t even imagine. This trial is a step forward not just for my family, but for everyone who faces this condition.
“Being part of something bigger than yourself is one of the best feelings. If my son can help in any way, that’s great. I’m not just having a baby for myself, I’m having a baby for everyone.”
Health and Care Research Wales provides funding to support to the Children and Young Adults Research Unit at the University Hospital of Wales.