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.

BUT…

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!

Gratefully,

Mary Fete
Executive Director

13 comments on “Babies With XLHED Treated In Utero”

  1. 1
    Karin Högkil on December 7, 2016

    How wonderful News
    Best regards

  2. 2
    Mary Fete on December 7, 2016

    I will keep you posted!

  3. 3
    Patricia on December 7, 2016

    This is great news…it is amazing

  4. 4
    Laura Locke on December 9, 2016

    This brings such an abundance of emotions. Tears of sadness, tears of excitement flow down my cheeks as I write this. As much as I wish Caleb didn’t have XLHED and the many health issues that accompany it, I don’t think my life would be as fulfilling without my HED family. I pray for a cure one day for our future generation but know if doesn’t come, we will be okay because we will continue to have each other.
    Merry Christmas, Happy Hanukkah, Happy Kwanzaa, or just a Happy Day to you all~The Locke Family

    1. 5
      Jodi Edgar Reinhardt on December 15, 2016

      That’s right, Laura. We will always have each other. We were emotional when we heard the news, too. Thousands of XLHED families supported this research for the last 30 years to get it to this point!

  5. 6
    Carolyn Morris on December 12, 2016

    As the grandma of the first baby treated in the U.S. – in San Francisco, I am so grateful. Grateful to my daughter and son in law who made a courageous decision, as all of us parents do with these precious ones. I am grateful to NFED for having been there when MY babies were born to support and educate me and bring fellowship to my kids through the nfed conference, which they sponsored with our hotel fees. I am also grateful to Edimer and UCSF Benioff Children’s hospital, who had wonderful staff that felt like family all the way through the newborn trial phase. We participate with interest in the yearly check ups with our 3 year old, and now have a 10 month old baby brother to add to the party. (No teeth yet, plenty of eczema though.) How Blessed we are to have these baby boys in our life. Great promise in the future. In my lifetime, I visited Dr. jonathon zonana at OHSU when my son was born in 1993. He diagnosed my daughter and son on the spot. He took my blood for DNA linkage study, because they had just isolated the gene for our type, x-linked hypohidrotic ectodermal dysplasia. Imagine my surprise to have my daughter’s first born child be eagerly anticipated not only by us, but also by a medical team on standby and corporate funding research company to boot. That there was joy of his having the familial gene condition, even among the sadness is TRUE. And how could I not wonder at what seemed to be the very stars aligning in my own lifetime! Even though the result of these first few babies dosed wasn’t as fully hoped, yet the very doing of it, has brought all of us on this unique yet shared journey, great promise and great hope for all of us…across the generations! Christ’s Peace and love to you all at Christmas.

    1. 7
      Jodi Edgar Reinhardt on December 15, 2016

      Beautifully said, Carolyn! Without your family’s participation and that of the 9 other babies in the XLHED Newborn Clinical Trial, we would have not got to the point of treating in utero. You helped the research advance!

  6. 8
    Tyrone Ferns on December 21, 2016

    Very encouraging study! There is still a lot to do, but it sounds like “we” are on the right track. I look forward to hearing updates.

  7. 9
    Cody Snell on March 21, 2017

    I am very disheartened by reading about Edimer closing its doors. My wife is pregnant again and we were interested in the prebirth treatments and I just got on today to see about contacting them. Has there been any updates on the babies treated in utero?

    1. 10
      Erin on March 25, 2017

      I would also like to learn of any updates on the babies treated in utero as my husband and I plan to have more children and would be interested in rebirth treatments potentially.

    2. 11
      Jodi Edgar Reinhardt on April 3, 2017

      Hi, Erin. We will definitely share any updates regarding the babies treated in utero as soon as we are able. If you are not already getting NFED newsletters, I encourage you to sign up at https://www.nfed.org. We will email our community with any research updates. Thank you!

    3. 12
      Jodi Edgar Reinhardt on April 3, 2017

      Hi, Cody. We should have an update that we are able to share with you within the next few weeks from Dr. Schneider. I’ll be sure you are notified.

  8. 13
    Fazy on April 28, 2017

    What a grat news
    Hope to hear that one day will come and our kids will be treated too

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