**Reproduced for the ED Society with the kind permission of the NFED in the U.S.**


newborn baby boy with ED looking straight into the camera

This Potential Therapy Would Be the First of Its Kind to Correct a Genetic Disease Before Birth

ST. LOUIS, May 31, 2023 – A baby boy born this month is the first to receive a recombinant protein therapy in the United States that may correct the symptoms of his rare disorder. He received the new, potential treatment as part of a clinical trial that could change his life and those of future generations affected by x-linked hypohidrotic ectodermal dysplasia (XLHED). 

The clinical trial aims to confirm early studies which showed the treatment restored sweat gland function and improved other symptoms in several babies. Two other babies in the U.S. received the treatment in Germany prior to a site opening in the States.

Babies born with this rare genetic condition have many symptoms, including sparse, fine hair; decreased saliva and mucous production; and missing and/or conical-shaped teeth. The most life-threatening symptom they experience is the inability to sweat. Sweating is a natural way the body cools itself to prevent overheating. Individuals affected by XLHED are at risk for overheating, which can be especially dangerous for babies who cannot communicate that they are too hot. 

The EDELIFE clinical trial is studying a synthetic protein replacement therapy, called ER004, to treat individuals affected by XLHED. The treatment is given to affected baby boys at key developmental stages before birth via intra-amniotic injections. The mother receives three injections during the second and third trimester of pregnancy, and the baby ingests the protein from the amniotic fluid in the womb. 

If approved, this treatment would be the first commercially available treatment for XLHED and the first prenatal therapy to alter a genetic, developmental disorder successfully.

Prof. Holm Schneider holding 2 baby boys looking at the camera

While studies have previously taken place in Germany and France, the first trial site studying this potential treatment in the U.S. opened at Washington University in St. Louis in July of 2022. In March and April of 2023, the first participant at the Washington University site received the potential treatment, and the baby was born in early May.

“I am very excited to be a part of this important clinical trial that has the potential to improve the lives of boys with XLHED,” said Dr. Kathy Grange, primary investigator in the EDELIFE clinical trial at Washington University.

“Along with the rest of the team at Washington University, I am looking forward to enrolling participants at our site in St. Louis.”

The trial will follow the baby for the first five years of his life. While results from the current trial will be published at a future date, prior studies that administered ER004 to fetuses in utero have shown improvements to XLHED symptoms, including restoration of the ability to sweat.

The EDELIFE clinical trial is sponsored by the Pierre Fabre Group and EspeRare. They are currently seeking volunteer participants at trial sites in the United States, France, Germany, Italy, Spain, and the United Kingdom. Women who are 18 – 40 years old, who have a known or suspected diagnosis of XLHED, and who are currently pregnant or expecting to become pregnant may be eligible to participate. Travel and all expenses associated with participating in the trial are paid by the sponsors.

Those in the U.K. who are interested in learning more can contact CEO of the ED Society, Diana Perry, at diana@edsociety.co.uk 

Outside of the U.K., individuals can find contact information for the trial site nearest them on the EDELIFE website here.

About the ED Society UK

The E.D. Society is a charity dedicated to improving the health and well-being of people whose lives are affected by Ectodermal Dysplasia (E.D.). We work together with people who have E.D., their families, researchers, health and other professionals to develop and share expertise, increase awareness and understanding, and assist with the day-to-day management of E.D.

About XLHED and the Ectodermal Dysplasias

Prof Holm Schneider examining baby boy on clinic table alongside mum

The ectodermal dysplasias are genetic conditions that involve defects in the hair, teeth, nails, skin and sweat glands. Other parts of the body also may be affected. There are more than 50 different ectodermal dysplasias, which are recognised by the combination of an affected person’s physical features and the way they are inherited. Symptoms can range from mild to severe. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common syndrome and features multiple malformed and missing teeth, the inability to perspire, sparse hair and recurring respiratory infections. As few as four and as many as 10 of 100,000 boys born are affected by XLHED. Only in rare cases does ectodermal dysplasia affect lifespan, and few types involve learning difficulties. The ectodermal dysplasias affect men, women and children of all races and ethnic groups.  

About the EspeRare Foundation

EspeRare is a Swiss non-profit organisation founded in 2013 committed to improving the lives of children with life-threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. EspeRare’s innovative model combines pharmaceutical know-how with philanthropic, public and private investments to develop and bring to life these discontinued therapies. With its unique patient-centred approach to drug development, EspeRare engages the patient community at each step of the process to give children and their families fair access to these therapies and new hope for the future. 

For more information, please visit www.esperare.org

About Pierre Fabre

Pierre Fabre is the 2nd largest dermo-cosmetics laboratory in the world, the 2nd largest private French pharmaceutical group and the market leader in France for products sold over the counter in pharmacies. Its portfolio includes several medical franchises and international brands, including Pierre Fabre Oncology, Pierre Fabre Dermatology, Eau Thermale Avène, Klorane, Ducray, René Furterer, A-Derma, Naturactive, Pierre Fabre Oral Care. In 2021, Pierre Fabre generated €2.5 billion in revenues, 66% of which came from international sales. 

Pierre Fabre is 86%-owned by the Pierre Fabre Foundation, a government-recognised public-interest foundation, and secondarily by its own employees through an international employee stock ownership plan. Established in the South-West of France since its creation, the group manufactures over 95% of its products in France and employs some 9,500 people worldwide. Its products are distributed in about 115 countries. 

Further information about Pierre Fabre can be found at www.pierre-fabre.com.