Regulatory models

For rare diseases, therapeutic approaches are often mutation specific, requiring personalized medicine type of approaches such as exon skipping. However, the regulatory models to test therapeutic compounds for safety and efficiency were developed with common diseases in mind. For rare diseases therapeutic compounds targeting subsets of patients, each has to be developed separately. This will become untenable with regards to time, costs and patient numbers.

The aim of the regulatory models working group (RM WG) is to discuss these issues with all the key stakeholders (regulators, clinicians, researchers, industry and patients) and to develop new regulatory models to facilitate and accelerate the clinical development of personalized medicine approaches such as exon skipping for rare diseases.

This will be achieved through workshops in which all key stakeholders are involved.

People interested in finding more information on regulatory procedures can use this link as a starting point.

Working group leaders:

Annemieke Aartsma-Rus - Netherlands
Nathalie Goemans - Belgium

Working group members:

Pavel Balabanov - United Kingdom
James Barrow - United Kingdom
Kate Bushby - United Kingdom
Giles Campion - Netherlands
George Dickson - United Kingdom
Alessandra Ferlini - Italy
Mirjam Franken-Verbeek - Netherlands
Stephen Lynn - United Kingdom
Marjon Pasmooij - Netherlands
Alex Smith - United Kingdom
Elizabeth Vroom - Netherlands
Dominic Wells - United Kingdom

Future activities

Future meetings and events will appear here in due course.

Past activities

A publication arising from the meeting hosted by EMA (see below) is being drafted.

The European Medicine Agency (EMA) has hosted a workshop on developing exon skipping therapies for Duchenne muscular dystrophy, organized by this COST Action with the SCOPE-DMD project. The meeting took place on 29 April 2015 and was a follow up to the “Antisense oligonucleotide therapy development for Duchenne muscular dystrophy“ meeting which was organized by TREAT-NMD and hosted by EMA in 2009.

The workshop was be an open forum discussion on the regulatory and translational challenges of developing exon skipping therapies for Duchenne and will involve patient representatives, regulators, academics, clinicians and industry representatives. A briefing document was prepared for this meeting, which can be found here. Throughout the day the meeting was streamed and recorded videos can now be viewed here.

Monica Ensini: 'This stakeholder meeting was a great example of how you can move things forward, in a constructive, non-confrontational manner. The meeting was of very high quality, based on science and data provided by each of the stakeholders present.'

Workshop on translational and regulatory challenges for exon skipping

Members of the regulatory models and biochemical outcome measures working groups met on May 26 2014 in Leiden to discuss translational and regulatory challenges for clinical development of exon skipping. The meeting report has been published in Human Gene Therapy and can be found at A summary for the general public has been produced as well and can be found here.

Workshop to discuss EMA draft guidance for DMD trials

This COST Action and TREAT-NMD organized a workshop at the Wellcome Trust head office in London on June 21st, to discuss outstanding issues (e.g. natural history, outcome measures, animal models and clinical trial design) to come to a coordinated response to the current public consultation by the EMA on the draft guidelines for clinical investigation of medicinal products in DMD/BMD.

The workshop was attended by 60 participants, including members of COST Action BM1207, as well as representative from 7 patient organizations, 12 pharmaceutical companies and experts involved in the production of the draft EMA guidelines.

A meeting report has been published in Neuromuscular disorders