EspeRare presents recent data on its JNK inhibitor program (ER005) at the 51th Congress of the “Société Internationale d’Oncologie Pédiatrique” (SIOP) https://siop-congress.org/ ER005 is is a first-in-class JNK inhibitor (c-Jun N-terminal Kinase) that was shown to be safe in humans in other fibrotic diseases. EspeRare is repositionning ER005 for rare oncologic pediatric diseases. At the SIOP, data will be presented on its selective cytotoxicity against rare and pediatric cancers. ER005 is an ideal candidate to be tested in combination with other chemotherapeutic drugs.
Repositioning ER005 poster.pdf
EspeRare presents its prenatal project, ER004 in XLHED, at the International Fetal Transplantation and Immunology Society (iFeTIS) in Singapore 6-7 September 2019. At the forefront of foetal medicine, this congress gathers clinicians and researchers from around the world, with a common goal of discussing their progress to deliver cell, gene or protein therapies to foetuses.
At EspeRare, we are committed to improve the lives of children with life threatening rare diseases. EspeRare addresses the unmet medical needs of these children by uncovering the potential of existing treatments. As a not-for-profit organization, we achieve this through a collaborative approach centred on patient engagement with the aim of giving children and their families fair access to these therapies and a new hope for the future.
In line with EspeRare mission to work closely with the patients community, we will present at this patients family conference, the latest update on our most advance programme and our plan to conduct an in utero clinical development for the treatment of a rare form of ectodermal dysplasia (XLHED). This treatment has not only the capacity to correct the most debilitating symptoms of XLHED, but also setting a novel regulatory path for treating genetic diseases before birth.
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 presented its results of Rimeporide's phase Ib study in Duchenne muscular dystrophy patients at the 15th ICNMD conference in Vienna
About Rimeporide: An experimental treatment in clinical development for the treatment of a broad rang of patients with Duchenne muscular dystrophy (DMD). The EspeRare foundation has obtained the orphan drug status by the European Medicines Agency and the US Food and Drug Administration for Rimeporide in DMD.
About ICNMD: This international congress is organized on behalf of the Applied Research Group on Neuromuscular Diseases of the World Federation of Neurology. Since 2014, the Congress has taken place in two-year cycles. This was the 15th International Congress, the aim of the Congress is to present a wide spectrum of neuromuscular diseases from the perspectives of advances in research, diagnosis and treatment.
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.”
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.
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.
Please find here the full press release in English, in German and in French.
EspeRare is now a member of EURORDIS, a federation of patient organisations and people active in rare diseases, which works to improve the quality of life of rare disease patients.
EURORDIS brings together over 700 patient organisations from over 60 countries representing 30 million patients with 4000 distinct rare diseases.
By becoming a member of EURORDIS, EspeRare reaffirms its commitment to placing rare disease patients at the centre of its efforts: we aim to provide patients with the best possible therapies and treatment conditions, hand in hand with our partners and with public stakeholders.
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 ella fund will support the development of EspoiR-005 (ER-005) in cancers affecting children. This initial endowment will fund a series of proof-of-concept screening studies to better characterize ER-005 effects in childhood cancers. To this end EspeRare is collaborating with the Centre Léon Bérard in Lyon, France, a cancer referral and treatment centre and research institute specialised in rare tumours, comprising a paediatric hemato-oncology unit.
Our new therapeutic candidate is a first-in-class candidate for the treatment of rare paediatric cancers. EspeRare obtained the rights to that molecule from a pharmaceutical partner and gained access to the results of previous studies on that compound, including safety and efficacy in humans.
Vast progress has been done in cancer treatments over the last years, however cancers affecting children have not received the same attention from the industry. In view of the severe unmet needs for these underserved young patients, should this initial research phase supported by the ella fund produce promising results, EspeRare intends to rapidly progress the development of this therapy into patients.
About The ella fund
The ella fund is a philanthropy fund sheltered by the Swiss Philanthropy Foundation that seeks to empower girls and women through education, healthcare and entrepreneurship. With this goal in mind they have recognised EspeRare as a promising venture philanthropic drug development organisation led by women.
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
The Fondation Pictet financially supports EspeRare’s new programme in a disabling and rare skin disease called X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED). EspeRare is honoured that such a prestigious foundation acknowledges this new project, designed to cure the most threatening symptoms of this disease.
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.
This new programme, called EspoiR-004 (ER-004) is the first and only therapy for this disease. It is also one of the first treatments designed to be delivered in-utero, paving the way for other such treatments.
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.
On the occasion of the 10th anniversary of its TV show Toutes Taxes Comprises (TTC), the Swiss TV channel RTS carried out a report on the Health Valley Switzerland. EspeRare illustrates, alongside Sophia Genetics and Mindmaze, the diversity, complementarity and dynamics of this ecosystem.
The Health Valley Switzerland, whose name is inspired by Silicon Valley in the USA, is a grouping of biomedical companies from French-speaking Switzerland. The network involves public and private research centres, companies and start-ups working in biomedical technologies, as well as hospitals and clinics. It includes more than 1,000 member companies and 25,000 employees. The Health Valley fosters interaction among its members, and gives international visibility to the biomedical expertise of French-speaking Switzerland.
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.
The Food and Drug Administration (FDA), the US Department of Health and Human Services, has granted an Orphan Drug Designation (ODD) for Rimeporide for the treatment of Duchenne muscular dystrophy (DMD). See here for more details.
ODD is designed to promote the development of drugs that may provide significant benefit to patients suffering from rare, life-threatening diseases. In particular, this ODD grants Rimeporide a 7-year data exclusivity in the US.
Rimeporide already received ODD in DMD from the European Medicines Agency in 2015. Further to this designation in Europe, EspeRare has been able to conduct a phase Ib clinical trial of Rimeporide on young DMD patients. This clinical trial will be completed by the end of 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 looking to re-launch 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!
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 12th European Paediatric Neurology Society Congress in Lyon on June 22nd.
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.
EspeRare President’s TedMed talk in now online.
In this inspiring speech, Sharon Terry shares her personal story about how, since science didn’t understand her kids’ rare disease, she and her husband decided to study it themselves. Thus they paved the way for patient empowerment in research and drug development.
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.
