The EspeRare Foundation and Pierre Fabre Medicament seek to develop the first treatment for x-linked hypohidrotic ectodermal dysplasia (XLHED). They are sponsoring a clinical trial called EDELIFE to study if a prenatal treatment called ER004 is safe and effective for boys affected by XLHED.
They are inviting XLHED-affected families to participate at study sites around the globe, including France, Germany, Italy, Spain, the United Kingdom and the United States. The trial site in the U.S. is located at Washington University, right in the NFED’s backyard, in St. Louis, Missouri.
The NFED began the XLHED research in the 1980s that has led to this potential treatment and fostered its advancement over the next decades. We are helping EspeRare and Pierre Fabre by sharing this information with our XLHED families and providing support should you choose to participate.
ER004 as a Treatment Before Birth
ER004 is a protein that researchers created to mimic the one that is missing in people affected by XLHED and causes its symptoms. According to EspeRare, by giving it to XLHED-affected baby boys in utero at the right time of development, ER004 should trigger the process that leads to the normal development of a baby’s skin, teeth, hair, and sweat glands, leading to better formation of these structures. ER004 is an experimental medicine which is only approved for use in clinical studies right now.
Six boys affected by XLHED received ER004 before birth and many of their symptoms improved, especially their ability to sweat. You can read about those results which were published in the New England Journal of Medicine. The EDELIFE trial seeks to confirm those early findings by showing that ER004 is safe and leads to a long-lasting improvement of some symptoms in XLHED-affected boys.
If they are successful, it could lead to the first approved treatment for XLHED that is available on the market.
Who Can Participate in the Trial?
Two groups of participants are needed for the trial.
Treated Group: Women with a confirmed genetic diagnosis of XLEHD who are 18 years old or older and pregnant with a baby boy who might be affected by XLHED.
The Control Group: XLHED-affected males, six months to 60 years old, who are blood relatives of the pregnant woman participating in the study. This group will NOT receive ER004 because we learned from the XLHED Newborn Clinical Trial that it does not work when given after birth. They are asked to visit the study site one time before the treated relative is six months old.
Researchers will compare the data collected from the treated XLHED boys to the XLHED-affected males in the control group who did not receive ER004.
Learn more about why the EDELIFE clinical trial is just for XLHED boys.
The doctor at each study site will screen potential participants. If approved, you would have 14 visits to the site over five years. Treatments for your unborn son would take place over three visits at pregnancy weeks 26, 28-29 and 31-32. They would give ER004 injections similar to an amniocentesis. You and the baby would receive other many other tests and health checks throughout the process.
Follow-up visits begin when your son is born and for the next five years. These follow-up visits are essential so the study can evaluate if the treatment has worked and how safe it is.
Learn the full process on the EDELIFE website.
What Are the Side Effects?
There could be side effects from ER004, since it is experimental, and from the injection procedure. The doctor leading each site can explain them to you. So far, there have not been any negative side effects.
Things to Consider Before Deciding to Participate
Joining a clinical trial can be a big decision for you and your family. Be sure to read all of the information available on the EDELIFE clinical trial website and ask all of your questions. Here are tips to help you decide if you should participate in a study.
Learn about two other mothers whose XLHED-affected sons received ER004 prenatally by reading Emily Nelson’s and Laura Reiser’s stories. They discuss why they chose to participate, the process and how their sons are doing after being treated.
If you are a pregnant woman who has XLHED but live in a country where there is no site, you may still be eligible. Contact Dr. Holm Schneider at email@example.com or +49 9131 8533775 to find out.
Check the full list of things to consider on EDELIFE’s site.
Genetic Testing Stipends
The NFED is offering financial stipends for genetic testing for women to confirm they carry the gene for XLHED. Confirmation is mandatory to participate in the trial. Several different genes can cause hypohidrotic ectodermal dysplasia. ER004 only works for the x-linked recessive type of HED (XLHED), which is caused by a mutation in the EDA gene. If you are a woman who is not sure which type of HED affects you, genetic testing should help. Contact NFED executive director, Mary Fete, at firstname.lastname@example.org to apply for a stipend.
How to Participate
You can participate in the trial at any of the eight sites in six countries: the United States, France, Germany, Italy, Spain and the United Kingdom. Contact the doctor who is responsible for the study in your country to ask questions or see if you are eligible. You can find their contact information on the EDELIFE website.
For the United States site at Washington University in St. Louis, contact Dr. Dorothy Kathy Grange at 314-454-6093 or email@example.com.
Visit the EDELIFE clinical trial to learn all details. Here are some other resources which may help you.
Reach out to Mary Fete at the NFED at firstname.lastname@example.org or 618-566-2020 to learn more or to let us know if you choose to participate. The NFED office is near the St. Louis site, and we would be happy to provide support to you and your family during the trials. We are here through your journey, along with EspeRare and Pierre Fabre, should you choose to participate.