Objective: we aim to achieve a better understanding of the effect of age on NPE and MRI changes in the adult DMD patients and hypothesize that the cerebral growth curves have an altered trajectory.
ID
Source
Brief title
Condition
- Muscle disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Main study parameters/endpoints: Presence or absence or significant differences
in brain volumes structural connectivity, cerebral perfusion and functional
connectivity between patients and healthy controls with respect to age, after
applying the appropriate statistics per measure. Neurocognitive parameters and
behavioural functioning will be assessed to describe the cohorts.
Secondary outcome
-
Background summary
Rationale: Duchenne muscular dystrophy (DMD) is a neuromuscular disorder caused
by mutations in the dystrophin gene. Dystrophin is not only expressed in
muscle, but also in the brain. About 40% of DMD patients show learning
disabilities, especially problems with automatization, working memory and
reading. We have previously shown altered total brain and grey matter volume,
white matter microstructure and cerebral perfusion in boys with DMD compared to
age-matched healthy controls using quantitative magnetic resonance imaging
(MRI). We also found lower scores on neuropsychological examination (NPE).
Preliminary data show that brain volume decline with age seems to be faster in
DMD than in controls suggesting a neurodegenerative process. The cognitive
impairment in DMD is thought to be non-progressive; however, the relationship
between age, intellectual functioning and MRI-visible changes is still a matter
of debate.
Study objective
Objective: we aim to achieve a better understanding of the effect of age on NPE
and MRI changes in the adult DMD patients and hypothesize that the cerebral
growth curves have an altered trajectory.
Study design
Study design: an observational case control study in which we will apply the
same MRI and NPE investigations used in our previous study in young DMD
patients (mean age 13.4 years) (P09.121) to an older group of DMD patients (>18
years).
Study burden and risks
Nature and extent of the burden and risks associated with participation,
benefit and group relatedness: The participants for both MRI and NPE are
required to come to the LUMC once for half a day (approximately 4 hours). They
will undergo an MRI of the brain and neuropsychological testing. These adult
patients with DMD are most likely non-ambulant and will require a hoist to be
transferred onto the MRI bed. They may also have contractures that prohibit
them from stretching out their legs on the MRI bed. We have extensive
experience and MRI accessories (pillows, soft bands etc.) to optimize their
comfort and safety. The participants with MRI contraindications who only take
part in the NPE can do so from home via either a live home visit from the
researcher or online consultation which will take approximately 2 hours. The
participants have no personal benefits to taking part, but the data will aid
our understanding of the brain involvement in DMD and help improve clinical
care.
Albinusdreef 2
Leiden 2333ZA
NL
Albinusdreef 2
Leiden 2333ZA
NL
Listed location countries
Age
Inclusion criteria
Group A: DMD patients, MRI and NPE
Group B: controls, MRI and NPE
Group C: DMD patients, NPE
For group A/C:
Able to provide written informed consent
Age 18 years or older
Genetically confirmed diagnosis for DMD
Male
For group B:
Able to provide written informed consent
Age: maximally one year apart from a DMD participant (expected to be between
18-30 years old)
Male
Exclusion criteria
A potential subject who meets any of the following criteria will be excluded
from participation in this study in group A:
- MRI contraindications
- Inability to complete the NPE
A potential subject who meets any of the following criteria will be excluded
from participation in this study in group B:
- A diagnosis for any neurological or neuropsychological disorder
- MRI contraindications
- Inability to complete the NPE
A potential subject who meets any of the following criteria will be excluded
from participation in this study in group C:
- Inability to complete the NPE
Design
Recruitment
metc-ldd@lumc.nl
metc-ldd@lumc.nl
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 | NL75238.058.21 |