Duchenne Muscular Dystrophy
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
2 Years to 99 Years
Inclusion criteria
Inclusion criteria: NON AMBULANT DMD PATIENTS 1. Children, teenagers and adults from the age of 5 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. 3. Patients should preferably 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., AMBULANT DMD PATIENTS Inclusion criteria: 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 (Table1). 3. Ability to walk independently for at least 10 meters at recruitment. 4. Patients should receive the standard of care for DMD as recommended by the NorthStar UK and TREAT-NMD (ie: on glucocorticoids treatment) 5. Sufficiently preserved pulmonary function (FVC >30%) and absence of symptoms of cardiac failure.
Exclusion criteria
Exclusion criteria: NON AMBULANT DMD 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 we anticipate may have emotional/ psychological problems if recruited in into a natural history study 4. Symptomatic cardiac failure 5. Recent (
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Functional tests assessing pulmonary function and upper- and lower limb performance. These includes spirometry (FVC, MIP, MEP, PEF, Peak cough flow), timed and graded functional tests, 6 minute walk test (6MWT) , NorthStar Ambulatory Assessment (NSAA), myometry and goniometry, and PUL assessment. Furthermore, questionnaires regarding quality of life and disease specific milestones will be filled out. | — |
Secondary
| Measure | Time frame |
|---|---|
| Occurrence of antidystrophin antibodies in serum and autoreactive T-cells to dystrophin during the course of the disease in relation to functional outcome measures. Proteomics in serum and urine to search for disease biomarkers. Genome wide SNP analysis. | — |
Countries
Netherlands
Outcome results
None listed