Our initiatives

PAST INITIATIVES

SMA Europe is playing a key part in the successful introduction of clinical trials across Europe. The translation of scientific advances into effective therapies is made more difficult by issues such as the complex regulatory environment in Europe, variations in standards of care, patient enrolment, a narrow therapeutic window and a need for more sensitive biomarkers and outcome measures.

The current SMA drug pipeline includes 6 potential therapies.

To address these issues, SMA Europe is and has been involved in numerous activities:


MAPPING THE CLINICAL TRIALS LANDSCAPE FOR SMA

Opportunities & Challenges in developing Clinical Trials for Spinal Muscular Atrophy in Europe – Rome, July 2012. This was the first international workshop we organised and funded, which gathered 34 scientists, clinicians and representatives of patient organisations to establish recommendations for improving clinical trials for SMA. These recommendations were published in Orphanet in March 2013.


INFORMING THE REGULATORS

SMA stakeholder WorkshopEuropean Medicines Agency (EMA), London, UK, 11th November 2016. Following a request by SMA Europe, EMA hosted a one-day workshop on spinal muscular atrophy (SMA) to allow SMA stakeholders, patients, doctors, industry representatives, researchers and regulators, to have an open forum discussion on the current challenges that face therapy development for SMA.

The programme was divided into three sessions which covered a number of topics including: an overview of the disease, molecules under investigation, natural history data, clinical outcome measures and potential use of biomarkers in drug development as well as the patient perspective on clinical trials. The importance of patients and carers’ input and involvement in the development of clinically meaningful outcome measures and how these are used in regulatory discussions and decisions was underlined throughout the day.

This workshop was co-organised with TREAT NMD and EMA.

Please read the meeting report.

The impact of SMA on European Type II & III patients and their therapeutic expectations – A survey, aiming to obtain a view on the current clinical state of European Type II and Type III SMA patients, its impact on their quality of life and their expectations regarding clinical development, was carried out by SMA Europe member organisations in July 2015. The survey aimed to inform drug developers and regulators of what a meaningful outcome from therapy would be.

The results of this survey were published in February 2017 in the journal, Neuromuscular Disorders: Rouault et al. Disease impact on general well-being and therapeutic expectations of European Type II and Type III spinal muscular atrophy patients Neuromuscul Disord. 2017 May;27(5):428-438


STANDARDS OF CARE

Eight years on, revisiting the Consensus Statement of Care in SMA – ENMC International Workshop, Naarden, The Netherlands, 19th February 2016: A workshop on SMA standards of care, supported by the ENMC, together with SMA Europe, SMA Support UK, Cure SMA and the SMA Foundation, was held. This initiative gathered twenty-one clinical researchers from seven different countries (USA [7], UK [6], Italy [3], Germany [2], France [1], Sweden [1], Denmark [1]), 2 ENMC representatives and 4 representatives of patient advocacy groups (SMA Europe: board member Anna Witchen and vice-President Mencia de Lemus), SMA Foundation [1], Cure SMA [1]).

The aim of the workshop was to review and update the 2007 standard of guidelines for spinal muscular atrophy. The workshop was conducted under the leadership of Richard Finkel, Eugenio Mercuri and Thomas Sejersen. This workshop focused upon 8 topics, each with a working group of 2 or 3 co-leaders who then selected approximately 10 international experts on that topic to participate in a structured review and discussion. Detailed literature review of available information preceded the working group’s expert opinion process, which utilised the Delphi technique, a structured sequential analytic process,  to arrive at a group consensus. Input from patient representatives and several pharmaceutical companies working on drug development for SMA was sought.

The revised standards of care are expected were published in Neuromuscular Disorders (part 1 & part 2). The lay report of the workshop can be found on the ENMC website.


OUTCOME MEASURES

Outcome Measures and Clinical Trial Readiness in Spinal Muscular Atrophy – ENMC International Workshop, Naarden, The Netherlands, November 2014: SMA Europe contributed to this workshop organised by the ENMC (European Neuromuscular Centre) which brought together 24 researchers and industry representatives from 9 European countries, two representatives of SMA Europe (one patient, one parent of 2 SMA affected children) and one representative from SMA Foundation. They met to update current knowledge on clinical trials and outcome measures for SMA. The workshop was conducted under the leadership of Richard Finkel, Enrico Bertini, Francesco Muntoni and Eugenio Mercuri. A paper was published in the Journal Neuromuscular.