The U.K. NorthStar Clinical Network

The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.

The primary objective of the study is to collect longitudinal data on motor and respiratory function in DMD patients from childhood to adulthood.

The secondary objectives of the study include collection of longitudinal data on other aspects of natural history on DMD, including respiratory, cardiac and endocrine complications, neurodiversity (cognitive impairment, neuro-behavioural disorders such as ADHD and autism), changes to bone density and occurrence of fractures, changes to puberty, incidence of scoliosis, unplanned hospital admissions, and quality of life. The study will also collect information on ethnicity.

Participants will attend an annual or bi-annual neuromuscular clinic, and will have a series of assessments and questionnaires with the study team. These include: key medical data, physiotherapy data, respiratory assessments, Quality of Life questionnaires, and DMD questionnaires. Following assessments and questionnaire completion, data is input into the study's tailor-made National Neuromuscular Database.

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Key information

Conditions

Duchenne Muscular Dystrophy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Genetic Diseases, X-Linked Muscular Diseases Muscular Disorders, Atrophic Muscular Dystrophies Muscular Dystrophy, Duchenne Musculoskeletal Diseases Nervous System Diseases Neuromuscular Diseases

Age range

Up to 99 year

Sex eligibility

Male

Study type

Observational

Primary location

Aberdeen, NHS Grampian, Aberdeen, United Kingdom

About this study

This study will make use of the existing NorthStar network to collect a wider range of clinically relevant data from paediatric and adult DMD patients, to describe more completely the natural history of the disease in different domains and across different life stages and disease phases. Data will be collected using assessment techniques and outcome measures appropriate to the major phases of the disease, and which are in some cases not currently part of the standard of care for DMD in the UK. The National Neuromuscular Database will continue to be used to collect and store these data. This study will allow the network to continue to describe the current natural history in DMD prospectively, with more robust subject ascertainment and completeness. This will help meet the current need for contemporary natural history data for the evaluation of new therapies, and further research in DMD.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

All patients with genetically confirmed diagnosis of Duchenne Muscular Dystrophy in the United Kingdom. Recruitment will also be possible in cases in whom the DMD diagnosis is made after a muscle biopsy even if the dystrophin gene variant is still being investigated.

Exclusion criteria

Involvement in clinical trials is not an exclusion criterion nor having had surgical procedures, as this is an observational research study. The regular clinical data of patients in clinical trials will be acquired as part of the clinical follow up.
Patients based outside of the United Kingdom.

Treatment and study plan

Primary outcomes

Longitudinal data on motor function in Duchenne Muscular Dystrophy (DMD) patients from the childhood to the adult phases of life

Time frame: From enrolment to the end of the study, across 18 months

Measure: NorthStar Ambulatory Assessment (NSAA). a scale from 0 (unable), 1 (completes independently but with modifications), and 2 (completed without compensation). Total score 0 - 34 with a higher score denoting a higher level of function.

Secondary outcomes

Longitudinal data on quality of life in childhood and adult patients.

Time frame: From enrolment to the end of the study, across 18 months

Measure: Duchenne Muscular Dystrophy Quality of Life Measure (DMD-QoL). The DMD-QoL has a hierarchical (or 'higher-order') factor structure, with 3 lower-order factors (physical, social, and psychological) and 1 higher-order factor (overall quality of life [QoL], comprised of the 3 lower-order factors). Higher scores represent a more positive QoL (overall or within each subscale).
Longitudinal data on quality of life in childhood and adult patients.

Time frame: From enrolment to the end of the study, across 18 months

Measure: The Quality of Life in Genetic Neuromuscular Disease Questionnaire (QoL-gNMD). The QoL-gNMD domain is measured on a T score metric i.e. a normal distribution with a mean of 50 and a standard deviation of 10.

High values represent good quality of life.

Interested in participating?

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Sponsors and collaborators

Lead sponsor

University College, London

Other

Collaborators

Muscular Dystrophy UK

Registry information

Official study title

Natural History and Standards of Care in Duchenne Muscular Dystrophy - the U.K. NorthStar Clinical Network.

Acronym: NS

Important dates

Study start: 2024
Primary completion: 2025
Study completion: 2025
First posted: Dec 2, 2024
Registry last updated: Dec 2, 2024

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

Published trials that share one or more normalized conditions with this study.

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