Amyotrofic lateral sclerosis Lou Gehrig's disease
Conditions
Interventions
All subjects will receive a MRI scan with a ttotal duration of approximately 60
minutes including 10 minutes for preparation and planning. MRI protocol
consists of a T1 weighted 3D anatomical scan,
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Subjects a. ALS patients: definite, probable, probable-laboratory supported or possible ALS according to the revised El Escorial criteria (Brooks 2000); - familar ALS is defined only if there is a family history of ALS. b. Healthy control subjects without ALS: including family members of ALS patients with and without an established mutation, without any sign of ALS. 2. Age 18 - 80 years (inclusive) 3. Capable of thoroughly understanding the study information given; has signed the informed consent. 4. Capable of climbing up the stairs, so the patient is able to climb up the MRI table
Exclusion criteria
Exclusion criteria: • Tracheostomy, tracheostomal ventilation of any type, (non)-invasive ventilation. • Any history or presence of brain injury, epilepsy, psychiatric illness and other cerebral disease (not related to ALS). • Any intoxication or medication known to have an association with motor neuron dysfunction, which might confound or obscure the diagnosis of motor neuron disease. • Presence of pronounced swallowing disorders or orthopnoea (which make it dangerous to lie supine in the MRI scanner). • Contra-indications to MRI scanning according to hospitals 7T MRI screening guideline of the UMC Utrecht. • Pregnancy
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameters are the level of brain metabolites as obtained with 1H-MRS and 31P-MRS that should discriminate between ALS patients, familiar persons and healthy persons. • Quantification of metabolites related to energy metabolism, such as Creatine, Glutamate, Glutamine (1H-MRS) and phosphocreatine, ATP and ADP (31P-MRS). • Quantification of metabolite levels related to neuronal/glial loss, such as N-Acetylaspartic acid, Choline, Creatine and Myo-Inositol (1H MRS). • Relation of these metabolite levels in regions with cortical thickness. • Quantification of neurotransmitter levels such as GABA (inhibitory neurotransmission) and Glutamate and Glutamine (excitatory neurotransmission) (1H MRS) and their relation with cartical thinning and clinical phenotype. • The relation of these metabolites levels to each other to discover a pattern of metabolic involvement in ALS. | — |
Secondary
| Measure | Time frame |
|---|---|
| • Clinical parameters including age, gender, age at onset of disease, site of onset, El Escorial criteria, disease severity (as measured by ALSFRS questionnaire), disease duration and progression rate, and presence of cognitive impairment (as measured by ECAS, as explained in the next section) in relation with brain metabolites. | — |
Countries
Netherlands
Outcome results
None listed