York muscle disorder patient joins worldwide drug trial
A woman with a rare muscle-weakening disorder has become one of the first patients in the world to take part in a trial of a potential treatment for the condition.Lauren Clarke, 24, from York, was diagnosed aged 14 with facioscapulohumeral muscular dystrophy (FSHD), which prevents her from standing for long periods and interferes with daily tasks. The study, run by Sheffield Teaching Hospitals NHS Foundation Trust, involves the use of a drug which targets the gene thought to trigger muscle weakness in FSHD patients, potentially slowing the condition's progression. Ms Clarke said: "I feel very fortunate to have this chance."
She said: "I'm trying not to get excited but there's a possibility this gene therapy could improve my condition."I'm slow to walk now. I struggle to wash my hair and put my hair up."There are things I can still do, but it's hard to go upstairs and there's a lot of overcompensation and funkier movements."When I go out to late-night bars people think I'm intoxicated because I walk funny."
Sheffield is one of only two non-American centres in the world recruiting patients into the trial, according to the NHS.Dr Channa Hewamadduma, principal investigator and lead neuromuscular consultant neurologist at Sheffield Teaching Hospitals, said the trial was another milestone in its research into "gene-silencing" treatments.Dr Hewamadduma said: "Our neuromuscular team are delighted to be bringing this hugely exciting research to the UK for the benefit of patients in the north of England and beyond."We have established vital networks to attract several novel targeted gene-modifying therapies for rare neuromuscular diseases which are coming through the drug development pipeline."Up to 100 patients worldwide, who will be randomly assigned to receive either the drug or a placebo, are set to take part in the study.Listen to highlights from South Yorkshire on BBC Sounds, catch up with the latest episode of Look North.
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