These groundbreaking research results have been published on the website of the University in Erlangen and in the New England Journal of Medicine, and I would like to share them with the rare diseases community.
What does this news mean for the families affected by Ectodermal Dysplasia?
Joshua, the first-born son of Corinna and Tobias T. from Bremen, has a type of ED called XLHED (X-linked hypohidrotic ectodermal dysplasia) that affects 1 out of 25,000 children. It primarily affects males and is inherited through female carrier.
This condition is characterized by sparse hair, lack of teeth and sweat glands. The lack of sweat glands may lead to hypothermia, followed by brain damage or death in early infancy. The children have pointed teeth, and they are often colloquially called “Vampires”.
Corinna and Tobias wanted to have more children. When Corinna got pregnant, the ultrasound determined that she was carrying twins boys with just two teeth buds. An MRI confirmed the diagnosis XLHED for both boys. The couple contacted Prof. Dr. Schneider (pediatrician and ED expert at the University Klinik in Erlangen.
In the body Ektodysplasin A1 (a protein) is responsible for the development of hair, teeth and sweat glands. Embryos with ectodermal dysplasia lack this protein. The synthetic version of EDAI, called EDI200 was developed by Edimer Pharmaceuticals in Massachusetts. Once it was deemed safe, the synthetic protein was tested on new born babies in USA. However, it only brought modest outcomes.
Dr. Schneider decided to try something never tried before. Corinna volunteered for the first worldwide in-utero treatment of her not-yet-born boys.
In February, 2016, Dr. Schneider and Dr. Florian Faschingbauer (OBGYN) administered 15 ml of protein into the amniotic cavities of each fetus the male at the gestational weeks 26, and administered a second round 31 days later. The embryos ingested the protein with the mother’s amniotic fluid. Injecting Ektodysplasin A1 (EDA1) is not enough. It has to be transported in the blood circulation of the unborn. The scientists used something called the Fc component of the human antibodies. In the child intestines, antibodies from the mothers milk can be transferred into the blood of the embryos.
Due to a maternal infection, the twins were born a little early– in week 33, without any problems. Linus and Maarten are able to sweat normally and Dr. Schneider reports that an impressive number of tooth buds were noted after treatment.
Another baby boy was dosed only once, but can sweat sufficiently. Three little boys can play and run around outside on sunny days, and because of this advance in medicine, their parents don’t have to worry about life-threatening overheating.
Dr. Schneider’s work was not a clinical trial, but a “Trial to Cure,” which was a legal possibility under the German law to treat just a few babies. In 2019 Espe Rare, a nonprofit organization based in Switzerland, plans to launch a clinical trial to established the in utero therapy with ER-004 as effective treatment of XLHED (Espe Rare has renamed EDI200 as ER-004). The European Medicines Agency will support this clinical trial.
I am convinced that finding a cure for a rare disease requires the efforts of scientists and physicians from all over the world. I hope, EC patients organizations from all over the world will support this very promising treatment, which has the potential to change the life of so many families.
Read more about this in PW’s earlier article here.
About the Author: Iva Rauh is a Pemphigus Vulgaris (a rare skin disorder) patient and patient advocate. She lives in Maryland, USA. Her daughter PD Dr Claudia Rauh OB GYN works in the University Klinik in Erlangen.
