Advancing treatments for rare diseases Together

rare disease

07Jul

EspeRare is currently 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 is life-threatening, particularly in the first years of life. Infants affected by this genetic disorder cannot sweat and are at risk of sudden death due to hyperthermia and severe respiratory issues. See here for more information on the disease

ER004 is the first and only therapy for this disease. ER004 was developed until 2015 by Edimer Pharmaceuticals (US). Unfortunately its development was stalled following a clinical setback as the treatment, when administered to newborn babies, did not seem to provide therapeutic benefits.

In the meantime, Prof. Holm Schneider, a German medical expert, renewed hope for XLHED patients. When he administered ER004 in-utero to 3 babies (including Maarten & Linus, the babies in the picture), he could show that these patients were subsequently able to sweat normally. These results highlight the strong potential for this therapy, when administered during pregnancy, to address the most debilitating aspects of XLHED. See here for more information on Maarten and Linus 

Using Prof. Holm Schneider’s promising new in-utero approach, EspeRare is now restarting the development of this promesing therapy. Currently, the main hurdle to overcome is to find the right regulatory and funding path forward. Once those challenges are addressed, clinical development in Europe is set to restart as early 2018.

Importantly and in-line with our patient-centered approach, EspeRare is partnering with XLHED patient associations, such as the American organisation NFED, to better understand the patients needs and their expectations from a therapy. See here for news from NFED

Together with our partners, we are working very hard to ensure a way forward for this ground-breaking treatment. We hope to be able to share more exciting news on this program soon!