We first started researching XLHED in the late 1980s. Since that time, we have led an ongoing effort to find a potential treatment. We are excited to have one going to clinical trial. In preliminary studies, three babies who received the therapy before birth developed normal sweat glands and an increased number of teeth. They had other positive outcomes as well. The clinical trial aims to confirm these findings. If approved, the treatment would go to market!
RECOMBINANT PROTEIN AS A PRENATAL TREATMENT
The gene that causes x-linked hypohidrotic ectodermal dysplasia (XLHED), EDA, was discovered in 1996 by an international team of researchers. In the early 2000s, a synthetic protein called ER-004 (formerly called EDI200 and APO200), was developed to replace the nonfunctioning protein in the EDA gene. Researchers administered the protein to mice and dogs with XLHED and had promising results. Since that time, there have been a series of human studies indicating the treatment is safe.
EspeRare to Re-Launch Research Study
EspeRare is developing the in utero protein replacement therapy for XLHED. This study will re-launch in Europe in the second half of 2021 and then in the United States. The study’s goal is to confirm the findings of Dr. Holm Schneider’s Trial to Cure (which you can read about below). Because the Trial to Cure only involved three babies, we must study the prenatal use of the protein on a larger number of babies affected by XLHED. If this treatment is found to be successful and it is approved, it could be the first treatment of its kind to correct a genetic condition before birth. We will post more information about the clinical trial when it is available.
Agnes Jaulent and Caroline Durand from EspeRare presented an update on ER-OO4 in a webinar on October 14, 2020. You can learn more about its history and next steps in their presentation.Learn more about ER-OO4 Study
EspeRare announced on July 6, 2020 that the FDA had granted ER-004 Breakthrough Therapy Designation which will expedite the processRead About FDA Designation
Testing a Non-Invasive Way to Diagnose XLHED in Utero
Prof. Angus Clarke at Cardiff University and his research team are investigating a way to diagnose XLHED in a baby prenatally in a way that is less invasive to the mother than current methods. If successful, this method will help facilitate EspeRare’s upcoming clinical trial. Mothers will be able to simply give a blood sample to learn if their baby is affected by XLHED. The NFED has awarded $25,000 to help underwrite this important research.Learn more about the Prof. Clarke’s study
Newborn XLHED Clinical Trial
In the Newborn XLHED Clinical Trial, 2013-2016, Edimer Pharmaceuticals evaluated whether the recombinant protein, then called EDI200, had 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.
Unfortunately, the clinical trial did not achieve its expected outcomes. There were some modest signs of improvement in the development and function of various body parts that XLHED affects. However, they didn’t see significant changes in sweat gland function and other early markers of biologic activity. That trial closed and Edimer shut its doors.
Trial to Cure
Dr. Holm Schneider from Erlangen, Germany was one of the initial primary investigators in the Newborn XLHED Clinical Trial. He and other investigators believe that dosing after birth is too late to impact the development of sweat glands and other key markers. They believe the dosing needs to occur by injecting the recombinant protein into the mother’s amniotic fluid, prior to birth.
In 2016, Dr. Schneider engaged in a “Trial to Cure” which is a legal possibility under the German law to dose. He administered the recombinant protein to three babies in utero who were affected by XLHED. He and his team of German researchers published their amazing findings in the New England Journal of Medicine in April of 2018.
XLHED Natural History Study
Dr. Holm Schneider completed the first part of the Natural History Study launched by Edimer Pharmaceuticals in 2014. Twenty-five children were examined up to age five. They can now compare this data of how XLHED develops naturally with the data from babies treated with the recombinant protein in the prenatal trial to determine if it works. We are proud to have helped fund this project.READ STUDY FINDINGS
Preliminary results show the potential to alleviate two symptoms of the most common ectodermal dysplasia. But we need your help to fund this project and others.
Research is at a Critical Point
Preliminary results show the potential to alleviate two symptoms of the most common ectodermal dysplasia. But we need your help to fund this project and others.Contribute to Groundbreaking Research
Following are links to XLHED research articles.
- Automatic Recognition of the XLHED phenotype from facial images
- X‐linked hypohidrotic ectodermal dysplasia (XLHED): Clinical and diagnostic insights from an international patient registry