1) To validate structural and functional changes (previous found in ALS patients) in other motor neuron disease and ALS mimicking syndromes and healthy control subjects 2) Explore brain alterations of asymptomatic family members in case of ALS, to…
ID
Source
Brief title
Condition
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
1) Cortical thickness, measured in T1 weighted images. The imaging data will be
compared in patients (ALS, MND, ALS mimics) and controls (3Tesla);
2).Structural connectivity of motor pathways with DTI and deterministic fiber
tracking (3Tesla); 3) Brain functional connectivity with resting-state fMRI
(3Tesla).
Secondary outcome
The structural changes will be regarded in relation to genotype and clinical
parameters (e.g. disease progression)
Background summary
Neuropathological as well as radiological studies have demonstrated structural
changes in brain and spinal cord of patients with ALS, for example white matter
changes and cortical atrophy especially in the motor cortex.
Study objective
1) To validate structural and functional changes (previous found in ALS
patients) in other motor neuron disease and ALS mimicking syndromes and healthy
control subjects 2) Explore brain alterations of asymptomatic family members in
case of ALS, to determine whether neuroimaging parameters show changes at an
asymptomatic stage of the disease. 3) Investigate gene effects on
neuropathology, associating genotypes with neuroimaging phenotypes. 4) Evaluate
the added benefit of using MRI parameters in therapeutic research
Study design
Observational cross sectional and longitudinal study
Study burden and risks
The participants will undergo clinical assessment and 3Tesla MRI in the UMC
Utrecht., with addidiontal follow-up in patients and controls will also undergo
the same follow-up to study brain alterations longitudinally. For the
individual participant there are no direct benefits. The information acquired
by this research project may provide new insights in diagnosing, measuring
disease progression and pathogenesis of ALS. The risk associated with
participation can be considered a minimal exceeding of negligible risk.
Heidelberglaan 100
Utrecht 3584 CX
NL
Heidelberglaan 100
Utrecht 3584 CX
NL
Listed location countries
Age
Inclusion criteria
1a) Patients: i) For ALS patients: definite, probable, probable-laboratory
supported or possible ALS according to the revised El Escorial criteria (Brooks
2000); familial ALS is defined only if there is a family history of ALS. ii)
For progressive spinal muscular atrophy (PSMA) or primary lateral sclerosis
(PLS): patients with clinical diagnosis of PSMA or PLS, after excluding other
diseases. iii) Patients with *ALS mimic syndromes*: patients suspected of /with
mimic disorders (e.g. multifocal motor neuropathy, inclusion body myositis,
cervical myeloradiculopathy, myasthenia gravis, Kennedy*s disease, spinal
muscular atrophy).
1b) Healthy controls without manifest diagnosis of motor neuron disease or ALS
mimic
2. Age 18 - 80 years (inclusive).
3. Capable of thoroughly understanding the study information given; has signed
the informed consent.
Exclusion criteria
1) Tracheostomy, tracheostomal ventilation of any type, (non)-invasive
ventilation; 2 ) Any history or presence of brain injury, epilepsy, psychiatric
illness and other cerebral disease; 3) Any intoxication or medication known to
have an association with motor neuron dysfunction, which might confound or
obscure the diagnosis of motor neuron disease; 4) Presence of pronounced
swallowing disorders (which make it dangerous to lie supine in the MRI
scanner); 5) Contra-indication for 3Tesla MRI imaging (as established by the
radiology department); 6) Pregnancy
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 | NL38994.041.11 |