In November 2021, two groups announced that they will continue promising research into a potential treatment for x-linked hypohidrotic ectodermal dysplasia (XLHED). The EDELIFE clinical trials will work to confirm the safety and efficacy of an in utero protein therapy, ER-004.
The EspeRare Foundation, a Swiss nonprofit organisation whose mission is to overcome roadblocks that prevent new therapies from reaching individuals affected by rare diseases, and the the Pierre Fabre Group, a French multinational pharmaceutical and cosmetics company, announced the opening of the EDELIFE clinical trial last year. And, if positive, the study could lead to the first approved treatment for XLHED by 2026!
Currently, the EDELIFE clinical trial is open in Germany at the University Hospital of Erlangen with Dr. Holm Schneider at the helm. Dr. Schneider has had prior success testing the ER-004 protein therapy through the Trial to Cure study.
In his prior studies, Dr. Schneider found that babies who were treated with the ER-004 protein in utero developed normal sweat function and an increased number of teeth. However, this study only involved three participants, which is why studying the prenatal use of this protein therapy on a larger number of participants is needed.
EspeRare and Pierre Fabre are currently seeking volunteers to participate in the EDELIFE trials. If you are a woman (18 or older), who is an XLHED carrier, and is pregnant or is planning to be pregnant in the next two years, you may qualify to participate in this study.
Additional sites will open in the United States (two locations), France, Italy, Spain and the United Kingdom in 2022.
History of XLHED Research
In 1996, an international group of researchers first discovered that XLHED is caused by a mutation to the EDA gene. Because of this mutation, the altered gene does not produce a protein called ectodysplasin A1 (EDA1). This protein is necessary for normal growth of hair, teeth, skin, and certain glands, like sweat and mucous glands.
In the early 2000s, a synthetic protein, ER-004 (formerly called EDI200 and APO200) was developed to act as a replacement for the altered EDA1 protein in those affected by XLHED. This synthetic protein was administered to mice and dogs with XLHED, which showed promising results.
From 2013-2016, Edimer Pharmaceuticals evaluated the impact of the synthetic protein ER-004 (EDI200 at that time) on XLHED symptoms in newborns affected by XLHED. While the Newborn XLHED Clinical Trial did not produce the expected outcomes, it did lead researchers to hypothesize that earlier dosing, in utero, may produce positive effects.
In 2016, this hypothesis was tested in the Trial to Cure study, which found that the three, male participants in the study developed normal or near-normal sweat function and increased tooth bud, salivary gland and meibomian gland development.
Twin boys, Linus and Maarten, affected by XLHED, received in utero therapy with ER-004 in the Trial to Cure study. They both have normal sweat function and increased tooth bud, salivary gland and meibomian gland development compared to their older brother, also affected by XLHED. Read more about their story.
In July of 2020, the United States Food and Drug Administration (FDA) granted ER-004 Breakthrough Therapy Designation to expedite further clinical trials to investigate the safety and efficacy of the protein therapy.
On 14, December, 2020, EspeRare and Pierre Fabre announced that they had entered an agreement to develop ER-004 as a treatment for XLHED and eventually commercialise it.
In November, 2021, the EDELIFE clinical trial opened in Erlangen Germany, with more sites in Europe and the United States expected to open in 2022.