Advancing treatments for rare diseases Together

rare disease


EspeRare is exploring the possibility of re-launching the development of ER004 (formerly known as EDI200) as a treatment for babies affected by X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). XLHED is a serious rare disease that can be life-threatening in the first years of life (click here to learn more about XLHED). Infants affected by this genetic disorder cannot sweat and are at risk of sudden death due to hyperthermia and/or pneumonia.

ER004 is the first and only therapy ever investigated for this disease. ER004 was developed up until 2015 by Edimer Pharmaceuticals (US), but its advancement was stalled following a clinical setback; the treatment did not seem to provide therapeutic benefits when administered postnatally to newborn babies. Since then, Prof. Holm Schneider, a German medical expert, renewed hope for XLHED patients. He administered ER004 to 3 babies prenatally (including Marteen & Linus, the babies in the picture) and showed that these babies were subsequently able to sweat normally (click here to read more about the 3 babies treated prenatally). These results highlight the strong potential for this therapy when administered prenatally to babies.

EspeRare is now looking to build on Prof. Holm Schneider‘s successful prenatal administration results. EspeRare aims to restart the program in Europe with a multi-center clinical trial, using this promising new prenatal approach. At this point, the main challenges to overcome are regulatory and funding ones. Once EspeRare has established viable regulatory and funding paths to take this project forward, the trial could be underway as early as 2018. Critically, EspeRare has enlisted the support of Prof. Holm Schneider who would take on the responsibility of principal investigator for this study.

Importantly and in line with its patient-centered approach, EspeRare is partnering with XLHED patient associations, such as the American organization NFED, to better understand the community’s needs and their expectations from a therapy (click here to read a blog about EspeRare and the NFED).   

Together with its partners, EspeRare is currently working very hard to ensure that there is a way forward for this ground-breaking program. We hope to be able to share more exciting news on this program soon!