National Foundation for Ectodermal Dysplasias

Our mission is to empower and connect people touched by
ectodermal dysplasias through education, support, and research.

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XLHED Research

Newborn XLHED Clinical Trial: Investigating a Potential Treatment for Children with XLHED

In the Newborn XLHED Clinical Trial, Edimer Pharmaceuticals evaluated whether EDI200 has any impact on the symptoms of children affected by XLHED, including the early development of teeth, sweat glands, hair follicles, and more. Ten babies participated. Read more for the latest development in the trial announced January 6, 2016.
 

XLHED Natural History Study

 

2014 XLHED Research Report

XLHED Research Report

 

What is X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED)?

What is 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, which is to signal 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.

EDI200 is a synthetic version of EDA-A1 being developed by Edimer Pharmaceuticals, Inc. EDI200 given to newborn dogs who have XLHED can restore the growth of their teeth, skin structures and mucous glands.  By replacing the missing EDA-A1 with EDI200 while a baby with XLHED is still growing and developing, Edimer hopes to provide a life-long improvement in their health.

The XLHED Global GeneScreen Project - Free Genetic Counseling and Testing

Edimer Pharmaceuticals no longer offers this program. 

Our Journey Towards a Cure

  • 1981 – The NFED is founded. Board of Directors identified research as key.
  • 1986 – HED families provided first blood samples to Dr. Jonathan Zonana, a researcher at the Oregon Health and Science University.
  • 1987 – Dr. Zonana and colleagues mapped the XLHED gene, the first step in identifying it.
  • 1987 – The NFED established a Research Fund and began fundraising.
  • 1990 – First of 6 seed grants given to Dr. Zonana for “Gene Identification in XLHED.”
  • 1991-2003 - NFED’s financial and family support for Dr. Zonana enabled him to receive funding from the NIH for 12 consecutive years.
  • 1996 –Dr. Zonana and international team of researchers identified the gene for XLHED and provided a drug target for scientists.
  • 2002 – $24,970 given to Dr. Margret Casal at the University of Pennsylvania for “Immune Function in Canine Ectodermal Dysplasia: A Model for a Human Homologue."
  • 2004 – $20,400 given to Drs. Olivier Gaide at the University of Geneva. He and Dr. Pascal Schneider at the University of Lausanne successfully developed and used a recombinant protein called APO200 to replace the missing protein in tabby mice with XLHED.
  • 2004 – XLHED families completed surveys for Apoxis, a company in Switzerland which was developing APO200.
  • 2006 – Apoxis obtained orphan drug status for APO200.
  • 2007 – Dr. Casal successfully used APO200 to treat canine ectodermal dysplasia. The treated canines had significant improvement in dentition and sweat ability.
  • 2007 – Topo Target, a bio tech company, bought Apoxis and stopped development of APO200 because it didn’t fit its mission.
  • 2007-2008 – Christophe Maier and Stephane Demotz from Apoxis searched for investors to continue the APO200 research. The NFED collaborated by providing supportive data.
  • 2008 – $25,000 given to Dr. Casal to study the use of EDA in canines with XLHED.
  • 2009 – Third Rock Ventures purchased APO200, renames it EDI200, and forms Edimer Pharmaceuticals Inc.
  • 2009-present – The NFED collaborates with Edimer by providing supportive data and resources and granting access to patients.
  • 2010 – The NFED launched the Ectodermal Dysplasias International Registry to capture XLHED data.
  • 2010-2011 -  Natural history studies begin. The NFED collaborates with Edimer to determine the number of sweat glands in skin and their ability to produce sweat.  All participating males received genetic testing to build a  real natural history of XLHED.
  • 2011:  XLHED families help validatetechnologies and assessment endpoints for upcoming clinical studies of EDA replacement therapy.  This was the largest study of affected siblings ever done with the goal of demonstrating consistent symptoms within families.  
  • 2012 - XLHED families provided information for Edimer study that helped develop a completely nonā€invasive screening tool that could use a computer program to detect XLHED from a regular photograph of a face.
  • 2012/2013 – Edimer conducted a clinical trial to test the safety of EDI200 in adults affected by XLHED.
  • September 2013 – First XLHED baby received EDI200 in human clinical trial.
  • January, 2016 - Edimer announces completion of Phase II clinical trial. The trial did not achieve expected outcomes. Read more

Release: October 8, 2013  Download Press Release

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