MDF Magazine Issue 61 April 2020 (2)

Research
Breaking News: Research
Originally published online by
Muscular Dystrophy UK
• Roche announces global compassionate use plan for
Risdiplam
14 January 2020
The announcement means that doctors will be able to
apply for the potential treatment on behalf of their
patients with SMA Type I. Roche plan to expand access to
people with SMA Type II later in the year.
Roche UK will operate this compassionate use plan
until risdiplam has been approved via the Early Access to
Medicines Scheme (EAMS). This scheme, governed by
the UK Medicines and Healthcare Products Regulatory
Agency (MHRA), is designed to ensure people can access
promising new medicines at the earliest stage.
Risdiplam is an oral drug that increases SMN protein
levels, the protein absent in people with SMA. The drug
works by targeting the SMN2 gene. It is currently an
investigational medicine as it has not yet been approved
in the UK or elsewhere.
Parents of children with SMA Type I should speak to their
child’s doctor about gaining access to the treatment.
• Duchenne trial to extend to non-ambulatory boys and
men
8 January 2020
Pharmaceutical company, Catabasis, and charity
Duchenne UK have announced a partnership to study
the drug, edasalonexent, in the non-ambulatory DMD
population.
Edasalonexent works by turning off an enzyme called
NF-kB, which is known to be overactive in DMD. It has
been shown to slow the progression of Duchenne and is
currently being evaluated in a phase 3 trial in boys aged
four to seven.
28
The new study will evaluate the safety and efficacy of
the drug in non-ambulatory boys and men and will be
recruiting in the UK.
• IBM drug receives Fast Track designation
19 December 2019
Orphazyme have announced that the U.S Food and
Drug Administration (FDA) have granted the drug,
arimoclomol, Fast Track designation. The drug has been
developed as a potential treatment for sporadic inclusion
body myositis (sIBM). Fast Track designation is designed
to expedite the development and review of drugs in the
US.
We can expect results from the current phase 2/3 trial in
the first half of 2021.
• Wave halts development of DMD drug
17 December 2019
Wave Life Sciences have announced the disappointing
news that the development of the drug suvodirsen for
DMD has been discontinued.
They shared that the exon skipping drug did not ‘restore
meaningful levels of dystrophin’ in people with DMD.
Wave plan to share additional findings, which may inform
future research.
• Duchenne exon skipping drug approved by FDA
13 December 2019
Sarepta’s exon skipping drug, VYONDYS 53
(golodirsen) has been approved by the Food and Drug
Administration (FDA). The FDA regulates drugs in the
USA.
The drug is an antisense oligonucleotide (or
molecular patch) that binds to exon 53 of the dystrophin
gene and triggers exon skipping. It could be a potential
treatment for about 8% of people with Duchenne muscular
dystrophy (DMD).