Trials Sponsors Conditions Drugs Pricing

Conditions

Keywords

Duchenne muscular dystrophyNatural historyOutcome measuresNorth Star Ambulatory Assessment (NSAA)6 minute walk distance (6MWD)MyosetExon skipping

Outcome Measures

Primary Outcomes (1)

Disease progression
Evaluate disease progression from ambulant to non-ambulant patients through a composite assessment tool
up to 4 years

Study Arms (3)

Ambulant patients

A set of assessment tools (blood analyses, functional, respiratory, quality of life questionnaires, Dexa scan, MRI) will be performed.

Other: Set of assessment tools

Non-ambulant patients

A set of assessment tools (blood analyses, functional, respiratory, quality of life questionnaires, Dexa scan, MRI) will be performed.

Other: Set of assessment tools

Healthy volunteers and Disease controls

A set of assessment tools (upper limb function tests, MRI, blood analyses) will be performed

Other: Set of assessment tools

Interventions

Set of assessment toolsOther

Ambulant patientsHealthy volunteers and Disease controlsNon-ambulant patients

Registry-reported names are shown in full. Names without a link have not yet been matched to a Syfrah profile.

Eligibility Criteria

Age5 Years - 18 Years

Sexmale

Healthy VolunteersYes

Age GroupsChild (0-17), Adult (18-64)

Sampling MethodNon-Probability Sample

Study Population

Patients with Duchenne muscular dystrophy (DMD) recruited across 5 specialised neuromuscular centres (London, Newcastle, Paris, Leiden, Nijmegen)

You may qualify if:

For non-ambulant patients:

Sponsors & Collaborators

University of Newcastle Upon-Tyne
Othercollaborator
Association Française contre les Myopathies (AFM), Paris
Othercollaborator

Study Sites (5)

Institut de Myologie, Groupe Hospitalier Pitié Salpêtrière

Paris, France

Leiden University Medical Centre

Leiden, 2300 RC, Netherlands

Radboud University Medical Centre

Nijmegen, 6500 HB, Netherlands

Dubowitz Neuromuscular Centre, UCL-Institute of Child Health

London, WC1N 1EH, United Kingdom

John Walton Muscular Dystrophy Research Centre, Newcastle University

Newcastle, NE1 3BZ, United Kingdom

Related Publications (3)

Ayyar Gupta V, Pitchforth JM, Domingos J, Ridout D, Iodice M, Rye C, Chesshyre M, Wolfe A, Selby V, Mayhew A, Mazzone ES, Ricotti V, Hogrel JY, Niks EH, de Groot I, Servais L, Straub V, Mercuri E, Manzur AY, Muntoni F; iMDEX Consortium and the U.K. NorthStar Clinical Network. Determining minimal clinically important differences in the North Star Ambulatory Assessment (NSAA) for patients with Duchenne muscular dystrophy. PLoS One. 2023 Apr 26;18(4):e0283669. doi: 10.1371/journal.pone.0283669. eCollection 2023.
PMID: 37099511DERIVED
Trucco F, Ridout D, Domingos J, Maresh K, Chesshyre M, Munot P, Sarkozy A, Robb S, Quinlivan R, Riley M, Wallis C, Chan E, Abel F, De Lucia S, Hogrel JY, Niks EH, de Groot I, Servais L, Straub V, Ricotti V, Manzur A, Muntoni F; UK NorthStar Clinical Network and AFM Network. Genotype-related respiratory progression in Duchenne muscular dystrophy-A multicenter international study. Muscle Nerve. 2022 Jan;65(1):67-74. doi: 10.1002/mus.27427. Epub 2021 Oct 27.
PMID: 34606104

Biospecimen

Retention: SAMPLES WITH DNA

Single sample suitable for testing for SNP genotyping. This can be either a blood sample, saliva sample or already extracted DNA sample (including stored DNA samples from a laboratory.

MeSH Terms

Conditions

Muscular Dystrophy, Duchenne

Condition Hierarchy (Ancestors)

Muscular DystrophiesMuscular Disorders, AtrophicMuscular DiseasesMusculoskeletal DiseasesNeuromuscular DiseasesNervous System DiseasesGenetic Diseases, X-LinkedGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

Francesco Muntoni, PhD
Dubowitz Neuromuscular Centre, UCL-Institute of Child Health
PRINCIPAL INVESTIGATOR

Enrollment

35 participants (actual enrollment reported by the registry).

Study Design

Study Type: observational
Observational Model: COHORT
Time Perspective: PROSPECTIVE
Sponsor Type: OTHER
Responsible Party: SPONSOR

Study Record Dates

First Submitted

May 19, 2016

First Posted

May 23, 2016

Study Start

April 11, 2012

Actual (reported)

Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study

Brief Summary

Registry Overview

Trial Relationships

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Study Arms (3)

Ambulant patients

Non-ambulant patients

Healthy volunteers and Disease controls

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (5)

Related Publications (3)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations

Brief Summary

Registry Overview

Trial Relationships

Related Scientific Literature

Study Timeline

Study Start

First Submitted

First Posted

Primary Completion

Study Completion

Conditions

Keywords

Outcome Measures

Primary Outcomes (1)

Study Arms (3)

Ambulant patients

Non-ambulant patients

Healthy volunteers and Disease controls

Interventions

Eligibility Criteria

You may qualify if:

Sponsors & Collaborators

Study Sites (5)

Related Publications (3)

Biospecimen

MeSH Terms

Conditions

Condition Hierarchy (Ancestors)

Study Officials

Enrollment

Study Design

Study Record Dates

You may not qualify if:

Data Sharing

Source record

Locations