Drug AVI-4658 in exon skipping for Duchenne muscular dystrophy

Muscular dystrophy drug shows promise
Trials of a molecular patch for a defective gene suggests medicine could possibly safely reduce muscle degeneration associated with the disorder

25th July 2011 – A small trial in the united kingdom has shown that a new treatment for Duchenne muscular dystrophy could possibly be able to safely reduce muscle degeneration associated with the disorder.

The therapy involves using a molecular patch inside of a defective gene to allow manufacturing of an important protein in muscle fibres.

A leading muscular dystrophy charity in the united kingdom described the findings as “very encouraging”.

Duchenne muscular dystrophy affects close to one in 3,500 males in the UK. The problem causes progressive muscle weakness due to the breakdown and loss of muscle cells. by the time boys are aged among eight and 12 they come to be unable to walk, and by their late teens or twenties the problem is so really serious it generally prospects to an early death.

Protein deficiency
The problem is caused by a deficiency inside of a single protein in muscle fibres called dystrophin. The therapy being trialled involves using a molecular patch created to ‘skip’ the damaged part of the gene responsible for dystrophin manufacturing – a technique called ‘exon skipping’.

The newest trial, reported in the Lancet, was created to check the safety of whole-body injections of the drug AVI-4658 in 19 children. The patients were aged among five and 15 and acquired the medicine for 12 weeks at either great Ormond street Hospital in London or the royal Victoria Hospital, Newcastle.

Each boy underwent a muscle biopsy at the start and end of the treatment period to check for multiplied levels of dystrophin. before treatment, all of the boys tried listed less than 5% dystrophin levels.

Increasing doses
Participants acquired weekly intravenous injections of the drug. The treatment began with small doses and multiplied if they were nicely tolerated.

The researchers, led by Professor Francesco Muntoni from UCL Institute of child Health, found that 7 patients responded to treatment, with average dystrophin levels increasing from 8.9% to 16.4% of usual levels. 6 of these patients were in the groups receiving the highest doses of AVI-4658.

Well tolerated
The authors also statement no significant side-effects through the treatment. They say they are self-confident that potential clinical trials involving higher doses of the drug will lead to the creation of enough dystrophin to help prevent muscle wastage in patients with Duchenne muscular dystrophy.

Muntoni said inside of a statement: “These are quite exciting results that prove the circumstance for an even more detailed start looking at this genetic therapy. I’ve worked with patients with Duchenne muscular dystrophy for many years and also this is the first time we can say with confidence that we’ve created a significant breakthrough in the direction of finding a targeted treatment.”

‘Real confidence’
The Muscular Dystrophy Campaign said that though the molecular patch tried in this clinical trial can only treat 13% of boys with Duchenne, ‘exon skipping’ has the potential to treat up to 80% once more molecular patches are developed. It cautioned, though, the fact that response to treatment in the newest clinical trial was variable among patients.

However, Dr Marita Pohlschmidt, the charity’s Director of Research, said inside of a statement: “We have fought to find a treatment for this devastating problem for the past 50 years. nowadays we can say with actual confidence that we’re going to win that battle. parents of these boys can have actual hope for the future.”

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