Natural history study for people living with nemaline myopathy in the UK

Professor Laurent Servais at the University of Oxford is leading a UK team including Oxford, London Great Ormond Street Hospital and Evelina Children’s Hospital and Newcastle to study the natural history of nemaline myopathy. The team aims to recruit 45 patients across these four sites. They will also be working with international groups to make sure their study designs match up.

Details

Principal Investigator

Professor Laurent Servais

Institute

University of Oxford

Official title

A Multicentre, Prospective, Longitudinal and Observational Natural History Study for patients with Nemaline myopathy in the United Kingdom: NatHis-NM-MDUK

Duration

Two years

Total cost

£599,820

Conditions

Nemaline myopathy (NM)

Year

2024

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Background What are the aims of the project? Why is this research important?

Background

Nemaline, or rod, myopathies are types of congenital myopathies characterised by rod-like structures in muscle cells. They are accompanied by symptoms such as muscle weakness, as well as breathing and eating problems. Nemaline myopathies are rare conditions, affecting around one in every 50,000 people. They are caused by changes in several genes, including ACTA1, NEB, TPM3, TPM2, TNNT1 and more.

Developing treatments for these conditions requires a thorough understanding of the natural causes and progression of the condition. Given the number of different genetic changes that can cause nemaline myopathies it’s important to document these to help shape future research studies and clinical trials. This is why we have observational studies called natural history studies. Through these studies, researchers and clinicians can have access to invaluable information about people’s conditions, the progression of their condition, and if/how they are managing it.

What are the aims of the project?

Adults and children of different ages and stages of their conditions will be observed for three years. The team will measure medical data, including how they experienced their first symptoms and how their condition changed over time. They will assess motor function, the ability to perform certain tasks; breathing; swallowing function; as well as quality of life and fatigue. Participants will also be asked to complete questionnaires about their quality of life.

As part of the study, the clinicians hope to identify assessments that are sensitive to changes in a person’s condition and predict how the condition will progress based on a person’s symptoms. Likewise, this study will be used to prepare for clinical trials by optimising the recruitment of patients.

Why is this research important?

Information collected through natural history studies, such as this one, can benefit clinical trials by helping to identify reliable and viable outcome measures – a set of measures used in clinical trials to test if a specific drug is making a difference – as well as identify people who are suitable to participate in trials.