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An investigator-initiated prospective, longitudinal, single center, observational study to investigate biomarkers of TDP-43 and oxidized lipid metabolism in Amyotrophic Lateral Sclerosis (ALS).

Primary Objective: To characterise longitudinal changes in biomarkers of TDP-43 pathology and oxidized lipid metabolism in ALS patients. Secondary Objective: To characterize the relationship of longitudinal changes in these biomarkers to changes in…

Systematic Multimodal Approach for Biomarkers And Bulbar assessments In Early-diagnosed SMA

The goal of this research project comprises two important components1) To determine the motor unit number from the CMAP scan at time of diagnosis correlates with treatment efficacy2) To establish the usefulness of the changes in motor unit number…

An Observational Study in Participants with Ryanodine Receptor 1-Related Myopathies (RYR1-RM) to Determine Optimal Endpoint Measurements.

Primary objective* To determine the extent to which muscle strength is affected in patients with RYR1-RM with autosomal dominantmutations and describe measurements over time.Secondary objectives* To determine the extent to which fatigue and physical…

Pharmacokinetic - pharmacodynamic study of amifampridine modified release in LEMS patients

The aim of this study is to investigate the pharmacokinetics of the extended release formulation of amifampridine. Secondary objective of the study is to develop a PKPD model of amifampridine in LEMS.

Fatigue Improvement Through Aerobic exercise and Cognitive behavioural Therapy in patients with Myasthenia Gravis (FIT to ACT - MG)

The main objective is to investigate the effect of a 16-week AET or CBT program on fatigue in patients with MG, compared to care as usual.

Ten year follow-up in FSHD: the FOCUS-3 study

Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial readiness for FSHD research.

Optimizing gait with bidirectional tuning of the ankle-foot orthosis (AFO) stiffness in people with lower leg muscle weakness*

The objective of this pilot study is to evaluate the effects of separate individualization of the AFO stiffness towards plantar- and dorsiflexion in a spring-hinged NEURO SWING AFO compared to a spring-like AFO without hinge (3 types) having the…

Capturing key symptoms using smartphone recordings in patients with myasthenia gravis.

The main objective is to explore whether digital features of dysarthria, dysphonia, proximal arm fatigue and ptosis can differentiate between participants with and without MG.

A prospective study on myofiber contractility in myositis

In this clinical project we aim to fill in gaps in our knowledge on muscle fiber contractility, auto-immunity and myositis: 1) How responsive is human muscle fiber contractility following standard of care immunosuppressive treatment? 2) Is the…

Utilization of the Navigate Anti-AAV9 Antibody Assay in Support of the Novartis* Clinical Studies: COAV101B12301 *STEER* and COAV101B12302 *STRENGTH*

The primary objective of this study is to evaluate the performance of the Navigate Anti-AAV9 Antibody Assay using serum specimens in subjects with SMA in Novartis clinical studies COAV101B12301 *STEER* and COAV101B12302 *STRENGTH*.

Detecting drug effects in ALS patients using electrophysiological biomarkers

Main objective is to determine whether nerve excitability can detect drug-induced effects of Riluzole in yet treatment- naïve patients with ALS. Secondary objectives are to determine the correlation between the Riluzole plasma concentration levels…

Dynamic imaging of brain metabolism in ALS

To study the role of brain metabolites and macromolecules in relationship to pathogenesis, structural brain changes and clinical phenotype of ALS. This will reveal underlying molecular mechanisms of pathogenesis, structural brain changes and…