Update on the OPTIMISTIC study for myotonic dystrophy type 1

Published Date
Özge Özkaya

The OPTIMISTIC study, a collaboration between researchers and clinicians from the UK, Netherlands, Germany, and France has recruited 190 people as of February 2015.

The study aims to improve clinical practice and standards of care for patients with myotonic dystrophy type 1.

It is a four-year EU-funded project focusing on the non-pharmacological treatment of the condition.

It will assess a combination of cognitive behavioural therapy and exercise to see if these can increase activity, reduce fatigue and improve quality of life in people with myotonic dystrophy type1.

A number of different aspects of the condition are being studied including leg muscle and heart MRIs and blood and urine samples.

Myotonic dystrophy type 1 is caused by an expanded three-letter repeat in a gene called DMPK (dystrophia myotonica protein kinase). The repeat is found about 35 times in an unaffected person but expands from over 50 to several thousand in people with myotonic dystrophy type 1.

Professor Darren Monckton, a scientist supported by Muscular Dystrophy UK, and his team are using DNA extracted from the blood samples collected from the OPTIMISTIC study participants. This is to see if there is a link between the number of repeats and the age of onset and severity of the condition.

Read more about Prof Monckton’s project

Download a copy of the latest OPTIMISTIC newsletter

Learn more about myotonic dystrophy type 1

Read the latest research news for myotonic dystrophy type 1

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