Working…
COVID-19 is an emerging, rapidly evolving situation.
Get the latest public health information from CDC: https://www.coronavirus.gov.

Get the latest research information from NIH: https://www.nih.gov/coronavirus.
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 2 of 24 for:    Duchenne netherlands dmd

Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT02780492
Recruitment Status : Unknown
Verified April 2016 by University College, London.
Recruitment status was:  Recruiting
First Posted : May 23, 2016
Last Update Posted : May 24, 2016
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

Tracking Information
First Submitted Date May 19, 2016
First Posted Date May 23, 2016
Last Update Posted Date May 24, 2016
Study Start Date June 2012
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Current Primary Outcome Measures
 (submitted: May 20, 2016)
Disease progression [ Time Frame: up to 4 years ]
Evaluate disease progression from ambulant to non-ambulant patients through a composite assessment tool
Original Primary Outcome Measures Same as current
Change History
Current Secondary Outcome Measures Not Provided
Original Secondary Outcome Measures Not Provided
Current Other Pre-specified Outcome Measures Not Provided
Original Other Pre-specified Outcome Measures Not Provided
 
Descriptive Information
Brief Title Outcome Measures in Duchenne Muscular Dystrophy: A Natural History Study
Official Title Developing Tools for Assessing the Natural History of Ambulant and Non-ambulant DMD Individuals to Assist in Antisense-oligomer Clinical Trials
Brief Summary 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.
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.

Study Type Observational
Study Design Observational Model: Cohort
Time Perspective: Prospective
Target Follow-Up Duration Not Provided
Biospecimen Not Provided
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)
Condition Duchenne Muscular Dystrophy
Intervention Other: Set of assessment tools
Study Groups/Cohorts
  • Ambulant patients
    A set of assessment tools (blood analyses, functional, respiratory, quality of life questionnaires, Dexa scan, MRI) will be performed.
    Intervention: 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.
    Intervention: 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
    Intervention: Other: Set of assessment tools
Publications * Not Provided

*   Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline.
 
Recruitment Information
Recruitment Status Unknown status
Estimated Enrollment
 (submitted: May 20, 2016)
80
Original Estimated Enrollment Same as current
Estimated Study Completion Date December 2019
Estimated Primary Completion Date December 2019   (Final data collection date for primary outcome measure)
Eligibility 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
Sex/Gender
Sexes Eligible for Study: Male
Ages 5 Years to 18 Years   (Child, Adult)
Accepts Healthy Volunteers Yes
Contacts Contact information is only displayed when the study is recruiting subjects
Listed Location Countries Netherlands,   France,   United Kingdom
Removed Location Countries  
 
Administrative Information
NCT Number NCT02780492
Other Study ID Numbers 12/0096 (09DN17)
Has Data Monitoring Committee No
U.S. FDA-regulated Product Not Provided
IPD Sharing Statement
Plan to Share IPD: Yes
Responsible Party University College, London
Study Sponsor University College, London
Collaborators
  • 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
PRS Account University College, London
Verification Date April 2016