Dynamic imaging of brain metabolism in ALS

Conditions: Amyotrofic lateral sclerosis
Lou Gehrig's disease
10029317

Registration Number: NL-OMON56544

Lead Sponsor: niversitair Medisch Centrum Utrecht

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Pending

Sex: Not specified

Target Recruitment: 123

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

• 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

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, 2H-MRS, that should discriminate between ALS patients, asymptomatic<br /><br>family members of patients with ALS and healthy controls. This will be used to<br /><br>derive the main outcome:<br /><br>-TCA-cycle rate.<br /><br><br /><br>Main parameters from MRS.<br /><br>- Glutamate, glutamine, glucose, lactate,<br /><br>Main parameters from blood.<br /><br>- Glucose, lactate, % deuterium enrichment. </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 in relation with brain metabolites.<br /><br><br /><br>Other MRS parameters<br /><br>-N-acetyl aspartate (NAA), choline (Cho), creatine (Cr)<br /><br><br /><br>The primary outcome measure will be related to secondary parameters as well as<br /><br>parameters as acquired in earlier studies, mainly the anatomical MRI data as<br /><br>acquired in Imaging MND 11-552. e.g. cortical thinning. </p><br>