What’s going on with the research for x-linked hypohidrotic ectodermal dysplasia (XLHED) and EDI200?
Last January, I announced that Edimer Pharmaceutical’s Newborn XLHED Clinical Trial did not achieve the outcomes which we had hoped for. In that trial, they dosed newborns who were affected by x-linked hypohidrotic ectodermal dysplasia (XLHED) with a protein called ED1200 shortly after birth.
There were some modest signs of improvement in the development and function of various body parts that XLHED affects. However, Edimer didn’t see significant changes in sweat gland function, teeth and other early markers. All of us in the ectodermal dysplasias community were disappointed.
A Refresher on EDI200
Ectodysplasin–A1 (EDA-A1) is a protein that occurs naturally in the body. When a person is first growing and developing as a baby, EDA-A1 has a very important job. It signals the normal growth of hair, teeth, skin and certain glands like sweat and mucous glands. In people who are affected by XLHED, EDA-A1 is missing due to an alteration in the EDA gene. Edimer Pharmaceuticals, Inc. developed EDI200 as a synthetic version of EDA-A1.
Researchers found that injecting ED1200 into newborn dogs with XLHED restored the growth of their teeth, skin structures and mucous glands. The hope was that by replacing the missing EDA-A1 with EDI200 while a baby with XLHED is still growing and developing, that there would be a life-long improvement in their health. Unfortunately, the results were not what we had hoped for.
You may recall that Prof. Holm Schneider from Erlangen, Germany, one of the initial primary investigators in the clinical trial, planned to continue research on EDI200 this year. He, along with other researchers, believed that dosing after birth is too late to impact the development of sweat glands and other key markers. They hypothesized that injecting in utero will lead to better results.
I am excited to announce that Dr. Schneider has treated three babies with EDI200 by injecting it into the mother’s amniotic fluid, prior to birth. The early results are very encouraging.
Male twins were treated in utero at 26 weeks and again at 31 weeks. Due to a maternal infection, they were born a little early in week 33, without any problems. Dr. Schneider reports an impressive number of tooth buds were noted after treatment. It is too early to know how many teeth will develop, but the number of tooth buds is encouraging.
The sweat glands have appeared to develop normally! Dr. Schneider noted that it was a very hot summer in Germany and the twins did fine regulating their temperature.
Another baby boy was treated in utero and we await his birth. He was dosed only once at 26 weeks.
Although this is exciting news, we are guardedly optimistic. 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.
Edimer Closes Its Door
Edimer CEO Neil Kirby recently announced that they had no more funding for this research and that the company would be dissolving. We are incredibly grateful to Neil Kirby, Edimer’s CEO, and everyone who worked at Edimer for advancing XLHED research for the last seven years. Working together, we made incredible strides in the medical understanding and research of XLHED. Edimer also provided instrumental financial support to the NFED for key programs.
Without funding from Edimer or sources, there can be no progress with this work. As you well know, research takes time and we have a long way to go. But we must persist!
Our Next Steps
Two things must happen next:
- We need to continue to follow the babies in the initial Newborn XLHED Clinical Trial as well as those treated in utero to understand the long-term effects of this initial treatment.
- We need to continue the Natural History Study. This study enrolled boys and girls with XLHED during infancy and they will be followed until they are five years old. This important study will help us better understand the natural history of XLHED so we can improve care for the people it affects. Because it’s rare, we still have many unanswered questions about XLHED. Also, the study participants will serve as a control group for the therapeutic trial for EDI200.
We are strongly committed to this research as it has significant implications for all of our families. When we learned about Dr. Schneider’s progress, our Scientific Advisory Council and Board of Directors acted immediately and awarded a $25,000 research grant to Dr. Schneider to continue his work. Of course, this is a drop in the bucket in terms of needed funding, but the hope is that if Dr. Schneider can continue for a year, we will find a larger funding source.
It’s amazing what can happen in one year’s time. We started the year disappointed and are ending the year with incredible hope and excitement. We promised to continue advancing this research which we began in the 1980s and we are. As always, we appreciate the support of our families, donors and researchers who work with us to find answers. Stay tuned!