A5044789123- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- biodegradable polymer synthesis and properties
- Cardiac Imaging and Diagnostics
- Advanced MRI Techniques and Applications
- Congenital Anomalies and Fetal Surgery
- Spinal Dysraphism and Malformations
- Cytomegalovirus and herpesvirus research
- Coronary Interventions and Diagnostics
- RNA modifications and cancer
- RNA Research and Splicing
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Muscle Physiology and Disorders
- Craniofacial Disorders and Treatments
- Mechanical Circulatory Support Devices
- Biochemical Acid Research Studies
- Connective tissue disorders research
- Genetics and Neurodevelopmental Disorders
- Parvovirus B19 Infection Studies
- Skin and Cellular Biology Research
- Cardiomyopathy and Myosin Studies
- Autoimmune Neurological Disorders and Treatments
- Studies on Chitinases and Chitosanases
Universität Ulm
2017-2025
University Hospital Ulm
2022-2024
SMART Reading
2024
Marienhospital Stuttgart
2023
Stuttgart Observatory
2023
Klinikum Ludwigsburg
2023
German Center for Neurodegenerative Diseases
2022-2023
University and Rehabilitation Clinics Ulm
2018-2019
<h3>Importance</h3> Intravenous edaravone is approved as a disease-modifying drug for patients with amyotrophic lateral sclerosis (ALS), but evidence efficacy limited to short-term beneficial effects shown in the MCI186-ALS19 study subpopulation which was expected. <h3>Objective</h3> To evaluate long-term safety and effectiveness of intravenous therapy ALS real-world clinical setting. <h3>Design, Setting, Participants</h3> Multicenter, propensity score–matched cohort conducted between June...
In April 2023, the antisense oligonucleotide tofersen was approved by U.S. Food and Drug Administration (FDA) for treatment of
Abstract Amyotrophic lateral sclerosis is a fatal and incurable neurodegenerative disease that mainly affects the neurons of motor system. Despite increasing understanding its genetic components, their biological meanings are still poorly understood. Indeed, it not clear to which extent pathological features associated with amyotrophic commonly shared by different genes causally linked this disorder. To address point, we combined multiomics analysis covering transcriptional, epigenetic...
An expansion of the GGGGCC hexanucleotide in non-coding region C9orf72 represents most common cause familial amyotrophic lateral sclerosis. The objective was to describe and analyse clinical genetic features sclerosis patients with mutations a large population. Between November 2011 December 2020, characteristics n = 248 carrying were collected from scientific network German motoneuron disease centres. Clinical parameters included age onset, diagnostic delay, family history,...
Objective Neurofilament light chains (NfL) and phosphorylated neurofilament heavy (pNfH), established as diagnostic prognostic biomarkers in hospital‐based amyotrophic lateral sclerosis (ALS) cohorts, are now surrogate markers clinical trials. This study extends their evaluation to a population level, with the aim of advancing full establishment assessing transferability biomarker findings from controlled cohorts real‐world ALS populations. Methods We measured serum NfL pNfH levels all...
There is limited information on neurochemical markers being used to support and monitor the affection of motoneurons in patients with spinal muscular atrophy (SMA). The objective this study was examine cerebrospinal fluid (CSF) under treatment antisense-oligonucleotide (ASO), nusinersen.We measured axonal degeneration [neurofilament light chain (NfL) phosphorylated neurofilament heavy (pNfH)] along basic CSF parameters 25 adolescent adult SMA type 2 3 at baseline after four intrathecal...
Abstract Background The ALS Functional Rating Scale in its revised version (ALSFRS-R) is a disease-specific severity score that reflects motor impairment and functional deterioration people with amyotrophic lateral sclerosis (ALS). It has been widely applied both clinical practice research. However, Germany, several variants of the scale, each differing slightly from others, have developed over time are currently circulation. This lack uniformity potentially hampers data interpretation may...
Abstract Background Interventional trials in amyotrophic lateral sclerosis (ALS) suffer from the heterogeneity of disease as it considerably reduces statistical power. We asked if blood neurofilament light chains (NfL) could be used to anticipate progression and increase trial Methods In 125 patients with ALS three independent prospective studies—one observational study two interventional trials—we developed externally validated a multivariate linear model for predicting progression,...
Objective There is growing evidence that the course of amyotrophic lateral sclerosis (ALS) may be influenced beneficially by applying high-caloric food supplements (HCSs). However, it unknown which composition nutrients offers optimal tolerability and weight gain. Methods We conducted a randomised controlled study (Safety Tolerability Ultra-high-caloric Food Supplements in Amyotrophic Lateral Sclerosis (ALS); TOLCAL-ALS study) 64 patients with possible, probable or definite ALS according to...
Abstract Primary lateral sclerosis (PLS) is a motor neuron disease (MND) which mainly affects upper neurons. Within the MND spectrum, PLS much more slowly progressive than amyotrophic laterals (ALS). `Classical` ALS characterized by catabolism and abnormal energy metabolism preceding onset of symptoms, previous studies indicated that progression involves hypothalamic atrophy. Very limited weight loss observed in patients with PLS, raises question whether there are also less alterations. The...
Over the past years, some studies in amyotrophic lateral sclerosis (ALS) have provided heterogeneous findings regarding demographic and clinical data as well impact of various prognostic factors. It is known that these inconsistencies might be caused by a selection bias hospital-based sets. In this study, we sought to further characterize bias. We compared from ALS center at Ulm University (UC; n = 3833; 1997-2021) with population-based registry Swabia (SR; 852; 2010-2020). Patients UC were...
Abstract Background and purpose Growing evidence shows that ALS patients feature a disturbed energy metabolism. However, these features have rarely been investigated in the presymptomatic stage. Methods A total of 60 mutation carriers 70 age‐ gender‐matched controls (non‐mutation from same families) were recruited. All subjects underwent assessments their metabolic profiles under fasting conditions at enrollment, including body mass index (BMI), blood pressure serum levels glucose,...
Objective: Levels of chitotriosidase (CHIT1) are increased in the cerebrospinal fluid (CSF) amyotrophic lateral sclerosis (ALS) patients reflecting microglial activation. Here, we determine diagnostic and prognostic potential CHIT1 for early symptomatic ALS. Methods: Overall, 275 from 8 European neurological centers were examined. We included ALS with <6 >6 months symptom onset, other motoneuron diseases (oMND), mimics (DCon) non-neurodegenerative controls (Con). CSF levels analyzed power...
Background Dysregulation of the immune system in amyotrophic lateral sclerosis (ALS) includes changes T-cells composition and infiltration T cells brain spinal cord. Recent studies have shown that cytotoxic can directly induce motor neuron death a mouse model ALS from patients are to iPSC-derived neurons patients. Furthermore, clonal expansion unknown epitope(s) was recently found familial increased peripheral intrathecal activation CD8 + sporadic ALS. Results Here, we show an with by IL-2...
Background: Nusinersen is an antisense-oligonucleotide (ASO) approved for treatment of 5q spinal muscular atrophy (SMA). Since the drug cannot cross blood-brain barrier, it must be administered into cerebrospinal fluid (CSF) space repeatedly by lumbar puncture. However, little known whether ASOs have impact on CSF routine parameters that may yield information flow and/or intrathecal inflammation. The objective this study was to examine in SMA patients treated with nusinersen. Methods:...
Background: Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disease, characterized by progressive muscle weakness and atrophy. The approval of the antisense oligonucleotide (ASO) nusinersen now provides an effective pharmacological approach with potential to slow down or stop disease progression potentially major impact on patients' well-being. Objective: This study evaluates quality life (QoL) in pediatric adult patients over course therapy nusinersen. Methods: Twenty-six SMA...
In 2016, we concluded a randomized controlled trial testing 1 mg rasagiline per day add-on to standard therapy in 252 amyotrophic lateral sclerosis (ALS) patients. This article aims at better characterizing ALS patients who could possibly benefit from by reporting new subgroup analysis and genetic data.
Abstract Tofersen is the first effective and approved therapy for familial ALS caused by pathogenic variants in SOD1 gene. Following treatment with tofersen, neurofilaments patients CSF serum display a faster response than clinical parameters, underlining their importance as biomarker trials. This evidence led us to hypothesize that this novel might represent an opportunity identify additional therapy-responsive biomarkers ALS. We chose commercial NUcleic acid Linked Immuno-Sandwich Assay...