What’s hot in the Duchenne research field?

Eteplirsen approved by FDA (Sept 2016)

The Food and Drug administration has granted accellerated approval to eteplirsen (an exon 51 skipping compound) for Duchenne muscular dystrophy in the US. FDA based the approval on increased levels of dystrophin in biopsies from patients treated with eteplirsen in clinical trials. They have requested Sarepta to conduct additional clinical trials to test whether eteplirsen leads to a slower disease progression. It is anticipated that eteplirsen will become available in the US in 3-6 months.

BioMarin stops clinical development of exon skipping compounds (May 2016)

BioMarin has indicated to stop the clinical development of drisapersen (exon 51 skipping compound) and their compounds for exon 44, 45 and 53 skipping. They have made this decision based on discussions with the Food and Drug Administration (which ruled in January that they did not consider drisapersen ready for approval) and the European Medicines Agency (from which they have now withdrawn their application). BioMarin will focus on the development of the next generation of exon skipping compounds.

Medicine approved for Duchenne! (June 2014)

For the first time the Committee for Human Medicinal Products (CHMP) of the European Medicines Agency (EMA) gave a positive advise for a Conditional Market Authorisation for the medicine Translarna (ataluren) for the European Market to be used in ambulant patients over 5 years of age. This is a first time a medicine for Duchenne has received market authorization. Translarna only works for patients with a nonsense mutation. This is a small mutation where the code for an amino acid (protein subunit) is replaced by the code for a stop signal (indicating that the protein translation is complete). About 13% of the Duchenne patients have this type of mutation.

Conditional Market Authorisation can be granted to a medicine for patients with disabilities or life threatening affections for which no treatment is available. Conditional Market Authorisation is granted when the risk/ benefit balance is positive, but under the condition that additional data is collected in the future to confirm the positive benefit/risk balance. The Market Authorization will be re-evaluated on a yearly basis. Once sufficient data have been collected the conditional approval can be converted into full Market Authorization. However, if the company fails to fulfil the conditions of the conditional approval, or if the post-approval data reveal a negative benefit/risk ratio, the drug can be taken off the market.
Read the complete article about the advise.

Mutation-specific compounds tested in clinical trials

Two therapies for Duchenne patients are currently being tested in clinical trials, which are applicable only to patients with specific mutations: Translarna (treats only stop mutations) and exon skipping (restores the genetic code for certain deletions).