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A natural history study of people with congenital myotonic dystrophy

Dr Turner’s team will collect data from people with congenital myotonic dystrophy, with the aim of understanding which disease traits are clinically useful for assessment of the condition.
Details
Principal Investigator
Dr Chris Turner
Institute
University College London
Official title
CARE CDM: CArdio-REspiratory function in adult patients with Congenital Myotonic Dystrophy
Duration
One year (project extended due to unexpected delays)
Total cost
£74,565
Conditions
Congenital myotonic dystrophy Myotonic dystrophy type 1 (DM1)
Year
2021

Background

Congenital myotonic dystrophy is a severe form of myotonic dystrophy type 1 that typically begins in infancy. Although people with this condition often die in childhood, significant numbers live to be adults. However, the phenotype in other words, the observable traits) of congenital myotonic dystrophy in adults is poorly characterised.

What are the aims of the project?

Dr Turner’s study aims to provide a wide range of natural history data on adults with congenital myotonic dystrophy, including their genetic diagnosis, functional assessments of their muscle strength, the function of their hearts and lungs, cognitive assessment, and quality-of-life data.

Why is this research important?

This study will help to improve clinical trials on congenital myotonic dystrophy, by defining clinical endpoints (used to assess the outcomes of clinical trials), and will improve the type and relevance of information that is collected about adults with congenital myotonic dystrophy.

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