Advancing treatments for rare diseases Together

July 2017


EspeRare is currently repositioning Rimeporide, a discontinued heart failure drug, by developing it as a first-in-class innovative treatment for patients with Duchenne Muscular Dystrophy (click here to check this clinical development programme). Rimeporide has proven to be well-tolerated in multiple animal models and clinical trials in animals, healthy adults and young boys with Duchenne.

The mechanism of action of Rimeporide, NHE-1 inhibition, holds potential in multiple therapeutic indications and EspeRare is working towards establishing collaborations with world-class partners to explore this potential.

In particular, EspeRare recently started a collaboration with Larissa Shimoda, MS, Ph.D. and John Huestch, M.D., in the "Division of Pulmonary and Critical Care Medicine" (Johns Hopkins University School of Medicine, USA). The aim of this collaboration is to perform key studies with Rimeporide in in vitro and in vivo models of Pulmonary Arterial Hypertension (PAH). Over the last 10 years, their team have published several important research articles on the contribution of NHE-1 in the development of increased pulmonary vascular resistance and pulmonary vascular remodelling that leads to PAH, and the use of NHE-1 inhibitors to prevent this vascular remodelling.

A positive proof-of-concept in relevant animal models could support the initiation of a Phase II clinical trial to test Rimeporide’s therapeutic potential in patients with PAH.


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!


Prim’enfance is a Swiss non-profit foundation focused on understanding, preventing, detecting and treating diseases arising in early infancy .

During an event celebrating the foundation’s 10th anniversary held at the Geneva Hospital (HUG), Prim’enfance has awarded EspeRare a grant for its FloWatch project. EspeRare is delighted and honored to patner for the first time with Prim’Enfance, joining forces to bring health to children born with severe heart defects with the FloWatch project.