Outcome measures in Duchenne Muscular Dystrophy: A Natural History Study

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 20

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

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

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 (< 6 months) upper limb surgery or trauma
6. Anticipated surgery for anytime during the duration of the study
7. For the MRI substudy, patients with metal/metallic surgically inserted
equipment incompatible with MRI scan and patients suffering from claustrofobia.
, 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. Recent surgery or anticipated for anytime during the duration of the study
5. For the MRI substudy, patients with metal/metallic surgically inserted
equipment incompatible with MRI scan and patients suffering from claustrofobia.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Functional tests assessing pulmonary function and upper- and lower limb<br /><br>performance. These includes spirometry (FVC, MIP, MEP, PEF, Peak cough flow),<br /><br>timed and graded functional tests, 6 minute walk test (6MWT) , NorthStar<br /><br>Ambulatory Assessment (NSAA), myometry and goniometry, and PUL assessment.<br /><br>Furthermore, questionnaires regarding quality of life and disease specific<br /><br>milestones will be filled out.</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Occurrence of antidystrophin antibodies in serum and autoreactive T-cells to<br /><br>dystrophin during the course of the disease in relation to functional outcome<br /><br>measures. Proteomics in serum and urine to search for disease biomarkers.<br /><br>Genome wide SNP analysis. </p><br>