In vivo imaging of brain metabolism in ALS

Recruiting

Conditions: Amyotrofic lateral sclerosis
Lou Gehrig's disease
10029317

Registration Number: NL-OMON43668

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 130

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

• 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

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Main study parameters are the level of brain metabolites as obtained with<br /><br>1H-MRS and 31P-MRS that should discriminate between ALS patients, familiar<br /><br>persons and healthy persons.<br /><br>• Quantification of metabolites related to energy metabolism, such as Creatine,<br /><br>Glutamate, Glutamine (1H-MRS) and phosphocreatine, ATP and ADP (31P-MRS).<br /><br>• Quantification of metabolite levels related to neuronal/glial loss, such as<br /><br>N-Acetylaspartic acid, Choline, Creatine and Myo-Inositol (1H MRS).<br /><br>• Relation of these metabolite levels in regions with cortical thickness.<br /><br>• Quantification of neurotransmitter levels such as GABA (inhibitory<br /><br>neurotransmission) and Glutamate and Glutamine (excitatory neurotransmission)<br /><br>(1H MRS) and their relation with cartical thinning and clinical phenotype.<br /><br>• The relation of these metabolites levels to each other to discover a pattern<br /><br>of metabolic involvement in ALS. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>• Clinical parameters including age, gender, age at onset of disease, site of<br /><br>onset, El Escorial criteria, disease severity (as measured by ALSFRS<br /><br>questionnaire), disease duration and progression rate, and presence of<br /><br>cognitive impairment (as measured by ECAS, as explained in the next section) in<br /><br>relation with brain metabolites. </p><br>