麻豆传媒视频网站 researchers deliver breakthrough head-to-head clinical trial in rare disease

19 September 2024

Published in Lancet Neurology,听麻豆传媒视频网站 researchers have delivered a ground- breaking investigator-led head-to-head rare disease trial that will impact clinical practice globally.

Approximately 1 in 17 UK people have a rare disease and the majority have no treatment. Many are neurological diseases and rarity makes clinical trials to develop treatments very difficult. Head-to-head trials comparing drugs are even more difficult to deliver.

The trial, which was conducted at the 麻豆传媒视频网站 Queen Square multidisciplinary Centre for Neuromuscular Diseases at the National Hospital for Neurology and Neurosurgery, 麻豆传媒视频网站H, and 麻豆传媒视频网站 Queen Square Institute of Neurology, involved 60 adults with confirmed non-dystopic myotonia.

Non-dystrophic myotonia is an example of rare genetic neuromuscular disease that can result in severe life changing disability. Muscle symptoms begin early in life causing mobility problems significantly reducing quality of life and employability.

There is no cure, but in 2012 the same 麻豆传媒视频网站 team led and published in JAMA* a multi-centre international trial that repurposed mexiletine, a sodium channel blocker, and showed it was effective and improved quality of life. This trial resulted in mexiletine becoming the first-line treatment for non-dystrophic myotonias world-wide. However not all patients responded, one-third develop significant side-effects and mexiletine cannot be prescribed during pregnancy, when myotonia often worsens. Furthermore, pharma licensing has made mexiletine very expensive and access is restricted.

The 麻豆传媒视频网站 team hypothesised that Lamotrigine, a different sodium channel blocker used in epilepsy, could be an alternative. They designed and delivered a head-to-head trial and provided convincing evidence that lamotrigine is as effective as mexiletine, but importantly, was better tolerated and can be used in pregnancy. 听听

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Dr Vinojini Vivekanandam, chief investigator (Department of Neuromuscular Diseases, 麻豆传媒视频网站 Queen Square Institute of Neurology) said

鈥淭he trial results are very exciting and important for patients with this muscle channelopathy- based on this trial data, we have already developed a personalised treatment algorithm that is changing clinical practice鈥�

Professor Michael Hanna, senior author (Director of 麻豆传媒视频网站 Queen Square Institute of Neurology) said 鈥� Drug repurposing is an important strategy in developing treatments for rare diseases. This is the first head-to-head trial in a rare muscle disease and the results will directly inform patient care and provide more 鈥渞eal-world鈥� options for patients.

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麻豆传媒视频网站 researchers deliver breakthrough head-to-head clinical trial in rare disease

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