This study aims to assess metabolism in patients with DM1, in resting state, in the normal situation and during exercise, taking into account muscle mass, and compared to healthy age- and gender-matched subjects. We hypothesize that DM1 is…
ID
Source
Brief title
Condition
- Neurological disorders congenital
- Muscle disorders
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The main study endpoints are total energy expenditure (TEE), resting metabolic
rate (RMR) and substrate selection at rest.
Secondary outcome
Secondary endpoints include physical activity level (PAL) measured by
accelerometer, whole-body skeletal muscle mass measured by MRI, quadriceps
muscle cross-sectional area measured by CT, maximal grip strength measured by
dynamometer, body composition expressed as leg and whole-body lean tissue mass
measured by DEXA, muscle tissue morphology, muscle fibre differentiation,
muscle fibre type specific cross-sectional area and vascularization, muscle
fiber biochemical analysis, maximal oxygen uptake capacity (VO2 max) and
aerobic and anaerobic ventilatory thresholds determined by cycling exercise
test and muscle strength measured by1-RM (only applicable for DM1 affected
subjects taking part in the training program pilot).
Background summary
Myotonic dystrophy type 1 (DM1) is an autosomal dominant disorder that affects
the skeletal, cardiac, and smooth musculature and many other tissues. While
muscle weakness and myotonia (inability to relax muscles) are the main
characteristics of disease, patients with DM1 frequently experience marked loss
of muscle, as well as issues regarding nutrition and weight. Both a pilot study
and literature suggest that observed nutritional and weight problems might be
caused by metabolic abnormalities.
Study objective
This study aims to assess metabolism in patients with DM1, in resting state, in
the normal situation and during exercise, taking into account muscle mass, and
compared to healthy age- and gender-matched subjects. We hypothesize that DM1
is accompanied by impairments in whole-body and/or muscle metabolism.
Study design
The study design is a cross-sectional case control study.
Study burden and risks
All participants will undergo a 15-day study period. Initially, participants
will stay in a respiration chamber during 24 hours. Thereafter the study period
continues with 14 days under normal free-living conditions, during which energy
expenditure is determined by doubly labeled water and accelerometer. Throughout
these 14 days, there will only be one hospital visit. On the 15th day,
determination of muscle status will take place in the hospital through MRI, CT,
dynamometry, DEXA scan, muscle biopsy and exercise test.
Moreover, DM1 affected subjects will be offered to take part in a pilot
exercise program for a period of 6 weeks, training twice a week, after
completion of the initial 15-day study period.
Despite the conduction of multiple experiments, the risks involved in
participating in this study are minimal, as most carried out experiments are
usually part of standard care, with exception of doubly labeled water and
respiration chamber stay. Last mentioned tests are both considered safe for
humans.
Eventually, study results will serve as the basis for the development of a
targeted nutritional intervention in the future.
Oxfordlaan 10
Maastricht 6229EV
NL
Oxfordlaan 10
Maastricht 6229EV
NL
Listed location countries
Age
Inclusion criteria
DM1 affected subjects:
- Age 18 years or older.
- Legally competent adult.
- Defined DM1 of the adult subtype.
- Participants must be able to walk and to cycle (in order to perform exercise
tests).
- Participants must give informed consent by signing and dating an informed
consent form. Healthy control group:
- Age 18 years or older.
- Legally competent adult.
Exclusion criteria
- Implantation of pacemaker or ICD device, a implantable insulin device, a
neurostimulator, internal hearing aid or artificial heart valve.
- Implantation of orthopaedic prostheses, screws or plates.
- Metal shreds or splinters inside the body.
- Vascular clips in the body.
- Big tattoo*s and/or permanent make-up.
- Claustrophobia.
- Use of medication interacting with muscle metabolism (such as steroids and
statins).
- Diabetes mellitus.
- Weight loss of more than 3 kg in the last three months.
- Pregnant or lactating women.
- Use of protein supplements.
- Participation in an exercise program.
- Patients who are not able to perform basic activities of daily living such as
walking or patients who are suffering from other disabling comorbidity that
seriously hamper physical exercise (e.g. heart failure, coronary artery
disease, chronic obstructive pulmonary disease (COPD), orthopedic conditions).
- Body mass index (BMI) <18 or >35.
- Use of oral anticoagulants.
- In case of DM1 affected subjects: muscular impairment rating scale (MIRS)
score of 5 (which represents severe proximal muscle weakness).
- In case of the healthy control group: presence of a neuromuscular disorder or
an abnormal neurological examination (specifically if muscle weakness is
present), or other condition possibly interfering with muscle strength or
muscle mass.
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 | NL65617.068.18 |