Amyotrofic lateral sclerosis Lou Gehrig's disease
Conditions
Interventions
None listed
Sponsors
Universitair Medisch Centrum Utrecht
Eligibility
Age
18 Years to 64 Years
Inclusion criteria
Inclusion criteria: 1. a. ALS patients: definite, probable, probable-laboratory supported or possible ALS according to the revised El Escorial criteria (Brooks 2000); only if ALS patients have a family history of ALS, this will be defined as fALS. b. Healthy control subjects without ALS: including family members of ALS patients with or without an established mutation (i.e. we will not select them based on any knowledge about a mutation they might carry), 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. 5. Willing and able to lie in an MRI scanner uninterrupted for 90 minutes.
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 and/or to drink 2H-glucose). • Diabetes mellitus • Contra-indications to MRI scanning according to hospitals 7T MRI screening guideline of the UMC Utrecht. • Pregnancy • Any intoxication or medication that could influence the cerebral glucose metabolism as judged by the researcher
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Main study parameters are the level of brain metabolites as obtained with 1H-MRS, 2H-MRS, that should discriminate between ALS patients, asymptomatic family members of patients with ALS and healthy controls. This will be used to derive the main outcome: -TCA-cycle rate. Main parameters from MRS. - Glutamate, glutamine, glucose, lactate, Main parameters from blood. - Glucose, lactate, % deuterium enrichment. | — |
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 in relation with brain metabolites. Other MRS parameters -N-acetyl aspartate (NAA), choline (Cho), creatine (Cr) The primary outcome measure will be related to secondary parameters as well as parameters as acquired in earlier studies, mainly the anatomical MRI data as acquired in Imaging MND 11-552. e.g. cortical thinning. | — |
Countries
Netherlands
Outcome results
None listed