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EspeRare medical device program for newborn affected by severe cardiac defects has been selected among 11 finalists of the “Make Your Medical Device Pitch for Kids!” competition at the Sixth Annual Pediatric Device Innovation Symposium. Hosted by the Sheikh Zayed Institute for Pediatric Surgical Innovation at Children’s National Health System.

Follow the competition on Twitter #Innovate4Kids  

Find out more on the competition “Make Your Medical Device Pitch for Kids!” 

Find out more about Sixth Annual Pediatric Device Innovation Symposium.

Find out more about the FloWatch programme

EspeRare and Edimer Pharmaceuticals Inc. announced today that they have entered into an agreement for EspeRare to receive the full rights to continue the development of ER-004, an innovative therapy for X-linked Hypohidrotic Ectodermal Dysplasia (XLHED), a rare genetic disorder. EspeRare will be relaunching a clinical trial in the first half of 2019 geared towards generating evidence for marketing approval. These efforts will benefit from the EMA’s PRIME (PRIority MEdicines) scheme, due to the rarity of the disease, the absence of alternative treatment options and the encouraging results obtained in babies treated prenatally by Prof. Holm Schneider. This leading German paediatrician and specialist in XLHED pioneered the first successful “in utero” therapeutic administrations to affected fetuses at the University of Erlangen-Nuremberg. As highlighted in the recent New English Journal of Medicine (NEJM) publication, the results indicate that antenatal administration of ER-004 has the potential to address some of the most severe and costly symptoms of XLHED (N Engl J Med 2018; 378: 1604-1610).  The Ectodermal Dysplasia International Network Co-Chairwomen, Diana Perry and Ulrike Holzer,  said: "We are delighted EspeRare is relaunching this programme following Professor Schneider's very exciting results. The Ectodermal Dysplasia community fully supports this programme and looks forward to working closely with EspeRare, Professor Schneider and our members around the world."

“This is such an exciting time for the EspeRare team which warmly thanks all of its supporters who contributed greatly to giving a second life to this therapy, bringing back hope to the XLHED patient community” said Caroline Kant, Founder and CEO of EspeRare.  She added that “This innovative treatment approach has the potential to fundamentally change the lives of these patients and may also pave the way for other prenatal treatments to correct genetic diseases before birth.”

About XLHED

XLHED is a rare disorder resulting from genetic mutations in the gene EDA. Patients affected by XLHED are at risk for life-threatening hyperthermia based on their inability to regulate body temperature, and for clinically-significant pneumonias resulting from their abnormality in respiratory secretions. Cardinal signs and symptoms in XLHED include strongly diminished or absent sweat, reduced and abnormal airway secretions, few and often misshapen teeth, and absent or sparse hair.

XLHED patients who survive infancy are predisposed to atopy, presenting with eczema and asthma, chronic sinusitis, recurrent nose bleeds, and dry eye complications. Almost uniformly, they require dental interventions including early prostheses and implants. Their susceptibility to hyperthermia impacts normal participation in outdoor activities, sports and school attendance.  Medical, quality of life and self-esteem issues are life-long in this disorder. As is generally true with X-linked inheritance, males are fully affected while females are variably affected.

For further information on XLHED, please visit this website.

About the therapy 

ER-004 is a recombinant Ectodysplasin-A1 protein (EDA1) initially engineered in Lausanne, Switzerland, and further developed by Edimer Pharmaceuticals, Inc. This synthetic equivalent to EDA1 acts as a substitute for the dysfunctional protein in XLHED patients to potentially induce normal development of key ectodermal structures such as sweat glands, teeth and hair.

It is the first and only treatment specifically targeting XLHED. Administered at the right time during foetal development, it has the potential to become a “single course” treatment, effectively switching off symptoms of the disease throughout patients’ lives.

Press releases

Please find here the full press release in English, in German and in French.

The first clinical study of Rimeporide in boys with Duchenne Muscular Dystrophy (DMD), the RIM4DMD study, has been completed. The study examined the safety, tolerability and pharmacokinetic of Rimeporide, in patients aged 6 to 11 years affected by DMD. Effects on serum and imaging biomarkers were also explored. This RIM4DMD study started in March 2016 in 4 clinical centres in Europe: San Raffaele Hospital (Milano, Italy), Armand Trousseau Hospital/ I-motion (Paris, France), Great Ormond Street Hospital (London, UK) and Santa Creu i Sant Pau Hospital (Barcelona, Spain). The enrolment of 20 patients was completed in December 2017.

The patients received Rimeporide orally for 4 weeks. 4 dose levels were tested, in 4 ascending cohorts with 5 patients taking the drug at each dose level. The decision to progress to the next higher dose was made after review of safety and tolerability data for the preceding dose by an independent Safety Monitoring Committee (SMC).

Good tolerability was demonstrated in all dose cohorts, confirming the results obtained previously in adult subjects. Detailed analysis of the study results is ongoing.

EspeRare is engaging discussions with key opinion leaders in neuromuscular diseases and cardiomyopathy in order to design a phase II /III study which should start at the end of 2018/early 2019, depending on funding.

EspeRare would like to thank the patients and their family for their participation, all the clinicians and clinical sites’ staff for all the work done, as well as the patients organisations for their scientific and financial support, e.g. AFM-Téléthon, Altrodomani Onlus association in Italy, Duchenne Parent Project Italy and Duchenne Parent Project Spain.

The UK-based organisation Findacure invited EspeRare to present its innovative model at a conference on drug repositioning. This annual event brings together in London major stakeholders in the field (patient groups, clinicians, researchers and life sciences professionals)  on the occasion of World Rare Disease Day. This is a unique opportunity for all these actors to discuss the latest advances in drug repositioning as a source of future treatments for rare diseases.

Caroline Kant, EspeRare's CEO, will explain the philanthropic venture model and how it accelerates the development of treatments for rare diseases. Click here for details on her presentation.

Picture credit: Barbara Asboth

In its 24 November 2017 edition, the economic magazine of Bilan devoted a section to philanthropy for research in Switzerland.

EspeRare is featured in an article about the muliple ways to do Philanthropy in the research area. The interview with Caroline Kant, CEO of EspeRare, emphasises the urgency of finding accessible treatments to impact the lives of children with rare diseases. She then explains how the foundation's philanthropic venture model allow to accelerate to fight for rare diseases.

The last advances of the Rimeporide clinical study have been presented at the 22nd World Muscle Society congress, in St Malo. Numerous scientists and physicians have shown interest for this project.

Enrollment into this phase IB clinical trial should be complemented by the end of the year. Full results should be available during the first quarter of 2018. EspeRare is initiating discussions with  worldwide clinicians in order to design the phase II study which should start during 2018, depending  on funding.

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.

Prof Muntoni is the Principal Investigator of the multicenter european phase Ib clinical study in Duchenne Muscular Dystrophy boys. He presented Rimeporide in an oral communication at the 12^th European Paediatric Neurology Society Congress in Lyon on June 22^nd.

On this occasion he gave an update on the preclinical and the clinical development of this innovative treatment that addresses in particular the life-threatening cardiac damage in Duchenne Muscular Dystrophy patients.

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 10^th 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.