The ED Society continue to support this research, which is focusing on treatment to correct some of the symptoms in X-Linked Hypohidrotic Ectodermal Dysplasia.
We will keep you up to date with all the latest news and how you can get involved with this exciting research.
What’s the latest?
“EspeRare partners its XLHED program with Pierre Fabre” – December 2020
EspeRare has entered into a partnership with the Pierre Fabre group to develop ER004, a novel in utero protein replacement therapy for the treatment of X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare pediatric genetic disease.
There is currently no approved therapy for the treatment of XLHED and ER004 has the potential to become the first ever prenatally administered drug to correct a genetic disease before birth. During the second half of 2021 and in view of discussions with the EU and US regulatory agencies, both partners aim to start enrolling patients into a clinical trial geared towards marketing approval.
Find out more about this research and read the latest press releases here
Esperare, a not-for-profit organisation dedicated to the development of treatments for rare diseases, announced in July 2020 that the U.S. FDA has granted Breakthrough Therapy Designation to investigational ER-004 protein replacement therapy for the prenatal treatment of XLHED.
The Breakthrough Therapy Designation has been granted following the promising results from three XLHED subjects, who were treated by Professor Holm Schneider with a course of ER-004 intra-amniotic injections during the third trimester of pregnancy. These results, demonstrating that this prenatal treatment has a profound and life-changing effect on these infants, were published in the New England Journal of Medicine.
“Rare diseases, such as XLHED, often don’t receive the attention and research investments that patients and their families deserve. The FDA’s decision to grant Breakthrough Therapy Designation to ER-004 for the prenatal treatment of XLHED represents a significant milestone for patients, and EspeRare alike, in highlighting the severity of this condition and the importance of offering a potential first therapeutic option to this underserved patient population,” said Caroline Kant, EspeRare’s Executive Director. “This innovative treatment approach has the potential to fundamentally change the lives of these patients, and may also pave the way for other prenatal treatments to correct genetic conditions before birth. We look forward to continuing to work closely with the XLHED patient community towards these goals.”
In the second half of 2021, EspeRare anticipates to start enrolling patients into a pivotal study. In the United States, this program also benefits from Fast Track and Orphan Drug Designation. In Europe, the program receives support from the EMA’s PRIME (Priority Medicines) and also the Orphan Drug Designation. With these multiple regulatory incentives, the program can aim at a streamlined worldwide development.
About the XLHED Newborn Clinical Trial
Clinical trials are a crucial part of finding treatments and cures for ectodermal dysplasias. Clinical research is carried out with drugs, devices or other treatments which are tested in humans to see if they are safe and effective.
Edimer Pharmaceuticals’ XLHED Newborn Clinical Trial began back in 2013, and was the first one to test a potential treatment for an ectodermal dysplasia. They tested the use of EDI200, a protein therapy, to treat the symptoms of 10 new-borns affected by x-linked hypohidrotic ectodermal dysplasia (XLHED). This trial completed recruitment in 2015, however, they didn’t see significant changes in sweat gland function and other early markers of biologic activity.
Edimer and the research investigators involved came to the conclusion that the babies didn’t receive the protein early enough to have a significant impact. One of the investigators, Dr. Holm Schneider, had successfully explored a way of earlier dosing that would work not only in animal models, but also in affected humans.
As a result of his research findings, he dosed twin boys with XLHED in utero in the spring of 2016 and a third infant a few months later. All three treated children have since been able to sweat normally and have had no problems during summer time. They also show normal saliva production and clearly more tooth germs of the secondary dentition than their untreated affected brothers.
What is ER-004?
In 2017, Esperare picked up where Edimer Pharmaceuticals left off and were exploring the possibility of re-launching the development of ER-004 (formerly known as EDI200) as a treatment for babies affected by XLHED.
ER004 is a synthetic form of Ectodysplasin A (EDA), the protein missing in XLHED, during development. Through the years, you have heard us call it APO200 when Apoxis was developing it, then EDI200 when Edimer was involved and now it is called ER-004.
It is the first and only therapy developed for XLHED. This is cutting edge research and a highly innovative therapy.
Two Partners Re-Launch XLHED Research Study – April 2019
XLHED Treatment – From Set Back to Renewed Help – Summer 2017