Advancing treatments for rare diseases together

March 2018

19Mar

EspeRare becomes a member of EURORDIS

EURORDIS, patients associations, Rare diseases

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.

22Dec

The Fondation Pictet supports EspeRare's new project

fondation Pictet, XLHED

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.

 

16Mar

EspeRare’s first clinical study is completed

Rimeporide, Duchenne Muscular Dystrophy, DMD, clinical study

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.

08Mar

The ella fund supports EspeRare’s new programme in cancer

EspoiR-005, paediatric cancer, rare tumours

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.