Reinnervation and Neuromuscular Transmission in ALS

NCT06219759 | Recruiting

• 2 other identifiers: 83401-10-72-153-23
• Study Type: observational
• Target: 120
• Locations: 1 country
• Sites: 1

Brief Summary

The aim of this study is to describe the changes in the neuromuscular connection in patients with amyotrophic lateral sclerosis (ALS). The study consist of three substudies that have the following main hypothesis:

• nerve conduction study
• repetitive nerve stimulation (except for healthy controls) to examine impairment of the neuromuscular connection.
• motor unit number estimation with MScanFit to estimate number and size of motor units.
• ultrasound examination of muscles to measure size and condition of muscles.
• questionnaires on fatigue and functional status.
• blood sample for measurement of specialized analysis (c-terminal agrin fragment and neural cell adhesion molecule) and routine analysis (liver and kidney function as well as neurofilament light chain)
• muscle strength assessment manually and by dynamometer to follow progression of muscle weakness
• bioelectrical impedance measurement to follow the overall body composition.

Conditions

Amyotrophic Lateral Sclerosis

Outcome Measures

Primary Outcomes (3)

• Reinnervation

  Difference between fast and slow progressing patients in change in mean amplitude size of motor units as estimated by MScanFit motor unit number estimation.

  From baseline and 8 months

• Blood biomarkers

  Difference in blood concentration of c-terminal agrin fragment and neural cell adhesion molecule at baseline between ALS patients, healthy controls and ALS mimic disease patients.

  Baseline

• Fatigue and decrement

  Difference in proportion of participants with decrement between ALS patients and ALS mimic disease patients as well as degree of fatigue among ALS patients with and without neuromuscular transmission deficiency.

  Baseline

Other Outcomes (13)

• Difference in mean amplitude size over time in patients.

  Baseline, 4 months and 8 months.

• Difference in motor unit number estimation over time in patients.

  Baseline, 4 months and 8 months.

• Difference in mean amplitude size between patients and control groups

  Baseline.

Study Arms (4)

ALS patients

Patients enrolled prior to determination of diagnosis on referral to neurophysiological examination. When the diagnosis is later established they get categorized as ALS patients. ALS patients with recent diagnosis might also be included directly.

Other: Observational study

ALS mimic disease patients

Patients enrolled prior to determination of diagnosis on referral to neurophysiological examination. When diagnosis is later established and the diagnosis is NOT ALS they get categorized as ALS mimic disease patients.

Other: Observational study

Healthy controls

Healthy controls.

Other: Observational study

Disease controls

Patients with another motor neuron disease than ALS with slow progression.

Other: Observational study

Interventions

Observational study OTHER

Observational study.

ALS mimic disease patients; ALS patients; Disease controls; Healthy controls

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients refered for neurophysiological examination or patients followed at out-patient clinics.

You may qualify if:

• Referred to clinical neurophysiological examination on suspicion of motor neuron disease or diagnosed with ALS according to Gold Coast criteria within the last 3 months.
• Age ≥18 years old
• Able and willing to provide informed consent

You may not qualify if:

• Former central or peripheral nervous system disease
• Diabetes
• Electrophysiological signs of polyneuropathy at baseline visit
• Pacemaker
• Pregnancy
• Diagnosed with disease with slow, progressive loss of motor neurons
• Age ≥18 years old
• Able and willing to provide informed consent

Sponsors & Collaborators

• University of Aarhus: lead
• Aarhus University Hospital: collaborator

Study Sites (1)

Department of Neurology, Aarhus University Hospital

Aarhus, Central Jutland, 8200, Denmark

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples stored for batch analysis.

MeSH Terms

Conditions

Amyotrophic Lateral Sclerosis

Interventions

Observation

Condition Hierarchy (Ancestors)

Spinal Cord Diseases; Central Nervous System Diseases; Nervous System Diseases; Motor Neuron Disease; Neurodegenerative Diseases; TDP-43 Proteinopathies; Neuromuscular Diseases; Proteostasis Deficiencies; Metabolic Diseases; Nutritional and Metabolic Diseases

Intervention Hierarchy (Ancestors)

Methods; Investigative Techniques

Study Officials

• Jesper H Storgaard, MD

  Aarhus University and Department of Neurology, Aarhus University Hospital

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Jesper Storgaard, MD

CONTACT

004520231903; jesstg@rm.dk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 2, 2024
• First Posted: January 23, 2024
• Study Start: May 17, 2024
• Primary Completion (Estimated): December 1, 2026
• Study Completion (Estimated): December 1, 2026
• Last Updated: August 7, 2024

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1)