Ectodermal dysplasia (ED), the power of knowing : consider genetic testing for your ED

Ectodermal dysplasias are a group of serious, rare genetic conditions that affect the skin, sweat glands, teeth, hair and nails. They are caused by a gene mutation which leads to a missing or non-functioning copy of the protein needed for these tissues to grow and work properly.
Considering genetic testing is crucial in case of pregnancy project: indeed, every parent affected by XLHED has a 50% chance of passing the mutation to their children.
Both men and women can pass XLHED to their future children. The cause of XLHED is a mutation on the X chromosome. This leads to a faulty protein called EDA, which is essential during a child’s fetal development for the normal formation of sweat glands, skin, teeth, nails and many other glands in the eyes and respiratory system.
Boys and men with XLHED typically have more severe symptoms than girls and women.
Learning about the genetic cause of ED can help you better understand disease complications, learn about supportive treatment options, plan ahead for symptoms in your children and consider current research opportunities.
If you suspect a form of ED may run in your family, consider contacting the nearest patient advocacy group about genetic testing.
While some supportive care is possible to help manage the burden of symptoms, there are currently no curative treatments available for Ectodermal Dysplasia (XLHED). Edelife is a study of intra-uterine administration of an investigational medicine designed to replace a protein that is missing in those affected by XLHED. Edelife is The Study for Pregnant Women Expecting an Ectodermal Dysplasia (XLHED) Affected Boy.
We are now enrolling pregnant women.
For more information: Edelife | XLHED Clinical Trial I For Pregnant Women (edelifeclinicaltrial.com)