Advancing treatments for rare diseases Together

July 2017


In parallel of developing Rimeporide for the treatment of Duchenne muscular Dystrophy, EspeRare is now also initiating studying Rimeporide's therapeutic potential in Pulmonary Arterial Hypertension.

Rimeporide is a discontinued heart failure drug, that EspeRare has turned into an innovative first-in-class 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 healthy adults and young boys with Duchenne.

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

 In particular, EspeRare started a collaboration with Larissa Shimoda, Ph.D. and John Huestch, M.D. at the John Hopkins University School of Medicine in the "Division of Pulmonary and Critical Care Medicine". The aim of this collaboration is to explore the therapeutic potientiel of Rimeporide in Pulmonary Arterial Hypertension, using in vitro and in vivo models. Over the last 10 years, this team has published important research articles on the contribution of NHE-1 in the development of this debilitating disease and the use of NHE-1 inhibitors to prevent it.

Positive results from this study would support the initiation of a Phase II clinical trial to test Rimeporide’s therapeutic potential in patients with Pulmonary Arterial Hypertension.


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!


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.