SKIP-NMD – a new Duchenne clinical trial starting

SKIP-NMD – a new Duchenne clinical trial starting

SKIP-NMD – a new Duchenne clinical trial starting

A joint statement from the SKIP-NMD consortium

A new clinical trial to test a molecular patch skipping exon 53 in boys with Duchenne

muscular dystrophy is starting. The molecular patch could potentially be used to restore

dystrophin production in about eight percent of boys with Duchenne muscular dystrophy.

Members of the SKIP-NMD consortium met in November to finalise plans for enrolment.

Some boys have already been enrolled in London and Paris and more will be included at

these sites, as well as Newcastle and Rome in January 2015.  

Boys can take part that:

• Are between six to 15 years old.

• Can walk – boys need to be able to walk at least 250m in six minutes.

• Have been diagnosed with Duchenne muscular dystrophy and have a deletion (a mutation

where part of the dystrophin gene is missing) spanning exons 52, 45-52, 47-52, 48-52, 49-52

and 50-52

• Have stable respiratory and heart function.

• Have been on a stable dose of corticosteroids for at least 6 months.

If you would like to find out if your son might be eligible to take part in the trial please

contact:  Ms Hinal Patel, Patel, Hinal (hinal.patel@ucl.ac.uk)

About SKIP-NMD

SKIP-NMD is funded by the European Seventh Framework Programme FP7 and involves 10

research institutions and muscle centres from France, Italy and the UK.  

The aim of the consortium is to carry out a new clinical trial to test a molecular patch for exon

53. This is to restore dystrophin production in a subset of boys with Duchenne muscular

dystrophy, in particular those with a deletion (a mutation where part of the dystrophin gene is

missing) spanning exons 52, 45-52, 47-52, 48-52, 49-52 and 50-52.

The molecular patch for exon 53 has a morpholino chemistry and has been developed by

Sarepta Therapeutics (Cambridge, USA), who are members of the SKIP-NMD consortium

and have agreed to supply the drug for this study as well as fund part of the trial. Sarepta

Therapeutics is currently also testing another molecular patch to skip exon 51, named

Eteplirsen, now in advanced clinical trials in the USA.

At the recent meeting in Newcastle, scientists and clinicians made final decisions about the

assessments to be carried out during the trial to test the safety and efficacy of this new drug.  

Effective patient and family communication was also discussed as a priority. The

researchers and clinicians are working closely with patient organisations to ensure

information about the trial is clear and accessible for participating families and for the wider

patient community.

Patient organisations from the UK, France and Italy are a key part of the SKIP-NMD

consortium, representing the patients’ voice. They have contributed hugely to the clinical trial

protocol and the way information about the trial is communicated with the patient community.

Member organisations include:

* The Muscular Dystrophy Campaign, Duchenne Family Support Group and Action

Duchenne in the UK

* Association Française contre les Myopathies (AFM) and Duchenne Parent Project

France, in France

* Duchenne Parent Project Onlus in Italy.

On behalf of SKIP-NMD, and in consultation with all the patient groups in the consortium, the

Muscular Dystrophy Campaign recently ran a webinar for interested families. The webinar

highlighted the aims of this trial and explained the tests to be carried out. Duchenne Parent

Project Onlus ran a simultaneous webinar in Italian and AFM have translated the slides into

French for the project website. This webinar is available online here:

http://tinyurl.com/ot7srqp

Newcastle University has also made a video for the boys intending to take part that

illustrates clearly what will happen during the trial. The video will better explain the nature of

the study and what will be required from the individual participants if they decide to take part.

It will be used as part of the recruitment process.   

Francesco Muntoni, from UCL Institute of Child Health and Great Ormond Street Hospital for

Children in London, who coordinates the SKIP-NMD consortium, commented, “I am very

proud of being able to work with this team of excellent investigators in London, Newcastle,

Paris and Rome as well as with the Parents’ Organisations involved in this new trial, and

colleagues from Sarepta Therapeutics who have fully supported the study since its inception.

This is a trial in which for the first time we will use novel ways to better assess the efficacy of

this new molecular patch. The study will both tell us how safe this new drug is and use

several ways to measure its efficacy.”

For further information on Skip-NMD please visit http://www.skip-nmd.eu/ .

DFSG News page about Skip NMD