Try our beta test site
Trial record 2 of 21 for:    duchenne netherlands

Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study

This study is currently recruiting participants. (see Contacts and Locations)
Verified April 2016 by University College, London
Sponsor:
Collaborators:
Association Française contre les Myopathies (AFM), Paris
University of Newcastle Upon-Tyne
Groupe Hospitalier Pitie-Salpetriere
Leiden University Medical Center
Radboud University
Information provided by (Responsible Party):
University College, London
ClinicalTrials.gov Identifier:
NCT02780492
First received: May 19, 2016
Last updated: May 23, 2016
Last verified: April 2016
  Purpose
Novel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.

Condition Intervention
Duchenne Muscular Dystrophy
Other: Set of assessment tools

Study Type: Observational
Study Design: Observational Model: Cohort
Time Perspective: Prospective
Official Title: Developing Tools for Assessing the Natural History of Ambulant and Non-ambulant DMD Individuals to Assist in Antisense-oligomer Clinical Trials

Resource links provided by NLM:


Further study details as provided by University College, London:

Primary Outcome Measures:
  • Disease progression [ Time Frame: up to 4 years ]
    Evaluate disease progression from ambulant to non-ambulant patients through a composite assessment tool


Estimated Enrollment: 80
Study Start Date: June 2012
Estimated Study Completion Date: December 2019
Estimated Primary Completion Date: December 2019 (Final data collection date for primary outcome measure)
Groups/Cohorts Assigned Interventions
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

Detailed Description:

Novel emerging therapies for Duchenne Muscular Dystrophy (DMD) require a deeper understanding of DMD natural history. This study aim to assess the natural history of DMD through a composite assessment tool capable of capturing disease progression linking ambulant and non-ambulant phases of the disease.

With a recruitment target of 80 DMD patients across 5 centres (London, Newcastle, Paris, Leiden, Nijmegen), subjects are assessed 6 monthly according to a shared protocol. Assessments include 6-minute walk distance (6MWD), North Star Ambulatory Assessment (NSAA), Performance of Upper Limb (PUL) and MyoSet (myogrip, myopinch and moviplate). Both ambulant and non-ambulant subjects undergo upper limb evaluation and respiratory function test including forced vital capacity (FVC), maximum inspiratory and expiratory pressures (MIP/MEP). A subgroup of patients performs annual whole body DEXA scan. An imaging sub-study will aim to characterize muscle (upper/lower limb) and brain MRI.

The investigators will analyze the longitudinal data for the different assessment tools and explore correlations among them.

This study will offer a comprehensive natural history of DMD including novel outcome measures, allowing to capture disease progression and explore the relationship between different assessment tools.

  Eligibility

Ages Eligible for Study:   5 Years to 18 Years   (Child, Adult)
Sexes Eligible for Study:   Male
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
80 patients with Duchenne muscular dystrophy (DMD) recruited across 5 specialised neuromuscular centres (London, Newcastle, Paris, Leiden, Nijmegen)
Criteria

Inclusion Criteria:

For non-ambulant patients:

  1. Children and teenagers aged between 5 and 18 years with DMD, who have lost the ability to walk 10 meters with no support
  2. The diagnosis of DMD must be documented by genetic testing. If a muscle biopsy is available, it should contain less than 10% of revertant fibres
  3. Patients should have deletions amenable of skipping of exons 51 or 53 or 45 or 44 or 46 or 50 or 52
  4. Patients should be capable of sitting upright in a wheelchair for at least an hour
  5. Patients should be stable from a respiratory point of view. Artificial ventilation with either Bipap or tracheostomy is not a contraindication to the study.
  6. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age).
  7. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category.

For ambulant patients:

  1. Ambulant children from 5 years old and teenagers with DMD, and potential candidates for future genetic therapies with antisense oligomer (AO) exon skipping
  2. The diagnosis of DMD must be documented by MLPA or a standard genetic test for the disorder, genotypically confirmed to have an out-of-frame deletion(s) that could be corrected by skipping exon 51 or 53 or 45 or 44 or 46 or 50 or 52
  3. If a muscle biopsy is available less than 10% revertant fibres
  4. Ability to walk independently for at least 75 meters in 6 minutes at recruitment.
  5. Patients should receive the standard of care for DMD as recommended by the NorthStar UK and TREAT-NMD (i.e.: on glucocorticoids treatment)
  6. Sufficiently preserved pulmonary function (FVC >30%) and absence of symptoms of cardiac failure
  7. Informed consent signed by a parent/legal guardian (or by the patient if 16 years of age)
  8. In France, a subject will be eligible for inclusion in this study only if either affiliated to, or a beneficiary of, a social security category.

For healthy volunteers and disease controls:

  1. Participant are able to provide informed consent/assent for taking blood samples and/or performing limb MRI and/or physiotherapy assessment of the upper limb function
  2. Participants have a neuromuscular disease that is not Duchenne Muscular Dystrophy or are a healthy volunteer with no neuromuscular disease
  3. Able to have a blood sample taken

Exclusion Criteria:

For non-ambulant patients:

  1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)
  2. Patients with severe intellectual impairment, who would be unable to cooperate with examination
  3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study
  4. Symptomatic cardiac failure
  5. Recent (< 6 months) upper limb surgery or trauma
  6. Anticipated surgery for anytime during the duration of the study
  7. None of the current treatments for DMD are exclusion criteria
  8. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia.

For ambulant patients:

  1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)
  2. Patients with severe intellectual impairment, who would be unable to cooperate with examination
  3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study
  4. Recent surgery or anticipated for anytime during the duration of the study
  5. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia.

For healthy volunteers and disease controls

  1. Patients who are currently involved in interventional clinical trials aimed at restoring dystrophin will be excluded, as their data could not be used to establish natural history of the disease (participation in a previous interventional clinical trial prior to 6 months from being recruited in the study is not an exclusion criterion)
  2. Patients with severe intellectual impairment, who would be unable to cooperate with examination
  3. Patients/families the investigators anticipate may have emotional/ psychological problems if recruited into a natural history study
  4. For the MRI sub-study, patients with metal/metallic surgically inserted equipment incompatible with MRI scan will be excluded as well as patients suffering from claustrophobia
  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT02780492

Contacts
Contact: Dubowitz Neuromuscular Centre Institute of Child Health 02079052639

Locations
France
Institut de Myologie, Groupe Hospitalier Pitié Salpêtrière Active, not recruiting
Paris, France
Netherlands
Leiden University Medical Centre Recruiting
Leiden, Netherlands, 2300 RC
Principal Investigator: Erik H Niks         
Radboud University Medical Centre Recruiting
Nijmegen, Netherlands, 6500 HB
Principal Investigator: Imelda de Groot         
United Kingdom
Dubowitz Neuromuscular Centre, UCL-Institute of Child Health Active, not recruiting
London, United Kingdom, WC1N 1EH
John Walton Muscular Dystrophy Research Centre, Newcastle University Active, not recruiting
Newcastle, United Kingdom, NE1 3BZ
Sponsors and Collaborators
University College, London
Association Française contre les Myopathies (AFM), Paris
University of Newcastle Upon-Tyne
Groupe Hospitalier Pitie-Salpetriere
Leiden University Medical Center
Radboud University
Investigators
Principal Investigator: Francesco Muntoni, PhD Dubowitz Neuromuscular Centre, UCL-Institute of Child Health
  More Information

Responsible Party: University College, London
ClinicalTrials.gov Identifier: NCT02780492     History of Changes
Other Study ID Numbers: 12/0096 (09DN17) 
Study First Received: May 19, 2016
Last Updated: May 23, 2016
Individual Participant Data  
Plan to Share IPD: Yes

Keywords provided by University College, London:
Duchenne muscular dystrophy
Natural history
Outcome measures
North Star Ambulatory Assessment (NSAA)
6 minute walk distance (6MWD)
Myoset
Exon skipping

Additional relevant MeSH terms:
Muscular Dystrophies
Muscular Dystrophy, Duchenne
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked

ClinicalTrials.gov processed this record on February 17, 2017