To develop non-invasive markers for tissue changes in skeletal muscle using MR methods
ID
Source
Brief title
Condition
- Muscle disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Quantitative assessment of pathological changes in skeletal muscle of DMD
patients by assessment of:
- the level of fatty infiltration
- T2 relaxation parameters as a marker for muscle edema
- individual muscle volume
Secondary outcome
Variation of MR parameters between different muscles, or between different ages
in DMD patients.
Correlation of MR parameters with strength measurements.
Differences of T2 relaxation parameters between steroid users and non-steroid
users
Explore the use of other MR muscle parameters like diffusion tensor imaging.
Background summary
Duchenne muscular dystrophy (DMD) is a debilitating disease caused by mutations
in the dystrophin gene. The disease is characterized by severe and progressive
muscle weakness and patients have a reduced life expectancy of about 27 years.
Recently, the Leiden Duchenne research group showed the first successful
restoration of dystrophin expression in skeletal muscle in humans. For the
further development of therapies it is imperative to develop a non-invasive
tool that is capable of quantitatively assessing tissue changes in skeletal
muscle. The development of new drugs for DMD patients requires accurate and
repeated assessment of changes in skeletal muscle. The current gold standard,
via muscle biopsies, only yields local information, is invasive and cannot be
repeated often, especially not in children. The current CT or MRI techniques
only analyze small selected parts of muscle with a non-quantitative technique.
A non-invasive and quantitative method is imperative to enable accurate long
term assessment of therapy effectiveness.
It is almost a year ago that the experimental treatment in the OLE study has
been terminated and there are advanced plans to restart the experimental
treatment in these boys. With a view on the possible effect of the treatment on
the inflammation process and fat infiltration of the muscles in these boys.
This addendum offers the unique chance to determine the clinical applicability
of the recently developed non-invasive MR technique and to further evaluate
this in a target population. This will ultimately test MRI as outcome measure.
Study objective
To develop non-invasive markers for tissue changes in skeletal muscle using MR
methods
Study design
Observational, case-control study
Study burden and risks
There are no known risks associated with participating in an MRI study.
Subjects with intracranial or intraocular metal, a pacemaker, and
claustrophobia will be excluded because of potential contraindications of MRI
in such subjects. The Nederlandse Vereniging voor Kindergeneeskunde (NVK) code
of conduct; Gedragscode verzet bij minderjarigen die deelnemen aan
medisch-wetenschappelijk onderzoek will be applied to this study.
Albinusdreef 2
Leiden 2333 ZA
NL
Albinusdreef 2
Leiden 2333 ZA
NL
Listed location countries
Age
Inclusion criteria
DMD patients of 8 years and older with typical muscle weakness and a known genetic mutation in the dystrophin gene.
Healthy boys of 8 years or older form the control group.
Exclusion criteria
General exclusion criteria are:
- Claustrophobia
- Pacemakers and defibrillators
- Nerve stimulators
- Intracranial clips
- Intraorbital or intraocular metallic fragments
- Cochlear implants
- Ferromagnetic implants (e.g. thoracic implant for scoliosis)
- Inability to lie supine during less than 60 minutes;Exclusion criteria for healthy controls
- any muscle disease
- recent muscle trauma
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL28198.058.09 |