The U.K. NorthStar Clinical Network (NS)

November 26, 2024 updated by: University College, London

Natural History and Standards of Care in Duchenne Muscular Dystrophy - 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.

Study Overview

Status

Not yet recruiting

Conditions

Detailed Description

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.

Study Type

Observational

Enrollment (Estimated)

300

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

  • United Kingdom
      • Aberdeen, United Kingdom
        • Aberdeen, NHS Grampian
        • Contact:
          • Elma Stephen, MD
          • Phone Number: +44845 456 6000
        • Contact:
        • Contact:
          • Elma Stephen, MD
      • Belfast, United Kingdom
      • Birmingham, United Kingdom
      • Birmingham, United Kingdom
        • Birmingham Children's Hospital
        • Contact:
        • Contact:
          • Tracey Willis, MD
      • Birmingham, United Kingdom
        • Birmingham Community Healthcare NHS Foundation Trust
        • Contact:
      • Bristol, United Kingdom
        • University Hospitals Bristol and Weston
        • Contact:
        • Contact:
          • Anirban Majumdar, MD
      • Cambridge, United Kingdom
        • Cambridge University Hospitals
        • Contact:
        • Contact:
          • Gautam Ambegaonkar, MD
      • Cardiff, United Kingdom
      • Dundee, United Kingdom
        • NHS Dundee - Tayside
        • Contact:
        • Contact:
          • Gemma Robertson, MD
      • Glasgow, United Kingdom
        • NHS Greater Glasgow and Clyde
        • Contact:
        • Contact:
          • Iain Horrocks, MD
      • Lancaster, United Kingdom
      • Leeds, United Kingdom
        • Leeds Teaching Hospitals NHS Trust
        • Contact:
        • Contact:
          • Anne-Marie Childs, MD
      • Leicester, United Kingdom
        • University Hospitals of Leicester NHS Trust
        • Contact:
        • Contact:
          • Dhinesh Baskaran, MD
      • Liverpool, United Kingdom
      • London, United Kingdom
        • Great Ormond Street Hospital For Children NHS Foundation Trust
        • Contact:
        • Contact:
          • Adnan Manzur, MD
      • London, United Kingdom
        • Evelina London Children's Hospital
        • Contact:
        • Contact:
          • Vasantha Gowda, MD
      • London, United Kingdom, WC1N 3BH
        • Great Ormond Street Hospital For Children NHS Foundation Trust
        • Contact:
      • Manchester, United Kingdom
        • Manchester University NHS Foundation Trust
        • Contact:
        • Contact:
          • Imelda Hughes, MD
      • Newcastle, United Kingdom
        • Newcastle Hospitals NHS Foundation Trust
      • Nottingham, United Kingdom
        • Nottingham University Hospitals NHS Trust
        • Contact:
        • Contact:
          • Krupa Torne, MD
      • Oswestry, United Kingdom
        • The Robert Jones and Agnes Hunt Orthopaedic Hospital
        • Contact:
        • Contact:
          • Richa Kulshrestha, MD
      • Oxford, United Kingdom
        • Oxford University Hospitals
        • Contact:
        • Contact:
          • Sithara Ramdas, MD
      • Plymouth, United Kingdom
        • University Hospitals Plymouth NHS Trust
        • Contact:
        • Contact:
          • Heather Jarvis, MD
      • Sheffield, United Kingdom
        • Sheffield Teaching Hospitals NHS Foundation Trust
        • Contact:
        • Contact:
          • Min Ong, MD
      • Southampton, United Kingdom
        • University Hospital Southampton NHS Foundation Trust
        • Contact:
        • Contact:
          • Marjorie Illingworth, MD
      • Swansea, United Kingdom
        • Swansea Bay University Health Board
        • Contact:
        • Contact:
          • Kate Skone

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child
  • Adult
  • Older Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

DMD patients of all ages (both paediatric and adult) will be recruited into the study. No age limits or restrictions within the DMD population have been set for this study, as the study aims to capture the natural progression or DMD irrespective of the stage of the disease. All DMD patients in paediatric or adult clinical care will therefore be eligible to participate providing they have consented

Description

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.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort
DMD children and adult
Paediatric and adults with DMD

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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.
From enrolment to the end of the study, across 18 months

Secondary Outcome Measures

Outcome Measure
Measure Description
Time Frame
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).
From enrolment to the end of the study, across 18 months
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.
From enrolment to the end of the study, across 18 months

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

University College, London

Collaborators

Muscular Dystrophy UK

Investigators

  • Study Chair: Professor Francesco Muntoni, FRCPCH FMed Sci, University College, London
  • Study Director: Professor Giovanni Baranello, MD, PhD, University College, London
  • Study Director: Professor Michela Guglieri, MD, Newcastle University
  • Study Director: Professor Rosaline Quinlivan, MD, University College, London

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Estimated)

December 1, 2024

Primary Completion (Estimated)

April 30, 2025

Study Completion (Estimated)

June 30, 2025

Study Registration Dates

First Submitted

November 8, 2024

First Submitted That Met QC Criteria

November 26, 2024

First Posted (Estimated)

December 2, 2024

Study Record Updates

Last Update Posted (Estimated)

December 2, 2024

Last Update Submitted That Met QC Criteria

November 26, 2024

Last Verified

November 1, 2024

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • 242567

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

Fully anonymised summary-level data can be made available on request for collaborations. The data dictionary is currently publicly available.

IPD Sharing Time Frame

After the study has closed, a clinical study report, publications etc may be shared with researchers. Summary-level anonymised data can be requested, subject to approval.

IPD Sharing Access Criteria

Academic researchers may contact the study central research group to request collaboration, usage of assessments, summary level of data.

IPD Sharing Supporting Information Type

  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

product manufactured in and exported from the U.S.

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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