Research

You can also find updates on the latest research and stories in our articles library.

Research into the Ectodermal Dysplasias has been carried out since the 1800s when Darwin first documented his findings. However, very little was known about Ectodermal Dysplasia when we formed in 1996, the same year that an international team of Researchers, one of whom, Professor Angus Clarke, is the Chairman of the ED Society’s Medical Advisory Board, identified the first gene responsible for the X-Linked Hypohidrotic Ectodermal Dysplasia. Since that time research has continued around the world and more Ectodermal Dysplasia genes have been found.
A greater understanding of the identified genes and better treatments have enabled us to help our families lead a near normal lifestyle.
We continue to support research which is currently focusing on treatment to correct some of the symptoms in X-Linked Hypohidrotic Ectodermal Dysplasia neonatal boys.

ECTODERMAL DYSPLASIAS INTERNATIONAL REGISTRY

The Ectodermal Dysplasias International Registry is a resource for connecting researchers with individuals affected by the Ectodermal Dysplasias. It is an online database that collects and stores the personal information and symptoms experienced by affected individuals. We ask every individual affected by Ectodermal Dysplasia to complete a profile in the Registry. Together, we can advance research!

Why Joining the Registry Is Important?

The Registry helps us better describe the different Ectodermal Dysplasias which can lead to improved diagnosis. And, when a clinical trial becomes available, the Registry is a crucial way to alert eligible families of the opportunity to participate. Researchers interested in studying the conditions can request access to the Registry to find anonymous information to help them pursue a promising research direction.
When you join, you get access to some of the helpful information that we discover through our Registry. By visiting the Registry and selecting “Charts,” you can view specific information about Hypohidrotic Ectodermal Dysplasia, Ankylobelpharon-Ectodermal Dysplasia-Cleft Lip and/or Palate syndrome (AEC), Ectrodactyly-Ectodermal Dysplasia-Clefting syndrome, Goltz syndrome, Clouston and Tooth and Nail syndrome in chart form. For example, 52% of the individuals with AEC who completed a profile in the Registry report that they sweat minimally.

XLHED Clinical Trials

The ED Society are proud to continue supporting this research, which is focusing on treatment to correct some symptoms in X-Linked Hypohidrotic Ectodermal Dysplasia.

 

What’s the latest?

May 2023

THE FIRST BABY TREATED WITH POTENTIAL RECOMBINANT PROTEIN THERAPY IN THE U.S. HAS BEEN BORN

ST. LOUIS, May 31, 2023 – A baby boy born this month is the first to receive a recombinant protein therapy in the United States that may correct the symptoms of his rare disorder.

You can read the full press release here

April 2023

We often get asked “Why is it always the boys?” Boys affected by XLHED exhibit the full symptoms

So, why is the EDELIFE clinical trial just for XLHED boys?

Read more

June 2022

This is the news we have all been waiting for…..

Clinical sites are now open in France, Germany, Spain and Italy to recruit participants for the EDELIFE clinical trial.

Women who know or suspect that they are XLHED carriers and who are pregnant with a boy are invited to consider participating in the study. They can reach out to the clinical sites and they do not have to live in those countries to participate.

“Rare diseases, such as XLHED, often don’t receive the attention and research investments that patients and their families deserve. The FDA’s decision to grant Breakthrough Therapy Designation to ER-004 for the prenatal treatment of XLHED represents a significant milestone for patients, and EspeRare alike, in highlighting the severity of this condition and the importance of offering a potential first therapeutic option to this underserved patient population,” said Caroline Kant, EspeRare’s Executive Director.

“This innovative treatment approach has the potential to fundamentally change the lives of these patients, and may also pave the way for other prenatal treatments to correct genetic conditions before birth. We look forward to continuing to work closely with the XLHED patient community towards these goals.”

 

Temperature Research Programme

The Extreme Environments Laboratory at the University of Portsmouth have been learning from families with Ectodermal Dysplasia how living with ED affects temperature regulation. Some have already visited the lab so that we can accurately measure how hot they get when exercising.

What We Know So Far

From the information we have so far, most ED patients have some, but very limited, sweating and certainly not always enough to help cool the body.

As well as investigating sweating, we have been looking at methods to cool the body, most practical methods that can easily be performed require a good skin blood flow. In all, the people with ED we have tested have had very high skin blood flows, so we were able to suggest practical means of cooling. Immersing the hands and/or feet in cool water, or by spraying cool water over their bodies and using a fan to help cool them.

We have used these techniques with the British cycling team and also military personnel too.

We Need You!

We are keen to continue finding out more about temperature regulation in people with ED, and are still looking for people to participate in this research, and also for non-ED people to take part who are of similar build to a person we have tested with ED.

If you would like to learn more about yourself or a family member and are interested in taking part, we can either come to your home to take some basic measurements whilst you go about your normal daily activities or we can invite you to the lab in Portsmouth to take part in our more in- depth analysis.

Since the research began, we are grateful to have had a few families take part and all have reported having a great experience at the lab, having found the outcome really beneficial. Why not take a look at one of our ED families article they wrote for us to share with you all:

“We discovered that our son does sweat and is able to regulate his deep body temperature himself”

If you are interested in taking part in the study, please contact Heather Massey via email or telephone (07891432744)

Alternatively, you can get in touch with us at the Society.

If you wish to attend the laboratory in Portsmouth, you may be eligible to apply to our
Support Fund for help with your travel and accommodation expenses.