Publications by authors named "Jenny Norden"
gene screening in ALS - frequency of mutations, patients' attitudes to genetic information and transition to tofersen treatment in a multi-center program.
Amyotroph Lateral Scler Frontotemporal Degener
February 2025
Article Synopsis
- A study was conducted at 11 ALS centers in Germany from October 2021 to February 2024 to evaluate the frequency of pathogenic gene variants in ALS patients and their transition to an expanded access program for tofersen treatment.
- Out of 1935 patients screened, 48.8% chose to be informed about genetic variants related to tofersen, revealing that 1.8% had (likely) pathogenic variants, 0.9% had other pathogenic variants, and 7.0% showed hexanucleotide repeat expansion.
- The transition to tofersen treatment from genetic testing averaged 94 days, with a notable 74.0% of patients with certain variants opting for the therapy, highlighting the importance of comprehensive
Objective: Robotic arms are innovative assistive devices for ALS patients with progressive motor deficits of arms and hands. The objective was to explore the patients´ expectations towards a robotic arm system and to assess the actual experiences after the provision of the device.
Methods: A prospective observational study was conducted at 9 ALS centers in Germany.
Article Synopsis
- This multicenter study evaluated tofersen treatment for patients with SOD1-ALS, focusing on clinical outcomes and patient-reported outcomes (PRO) after at least 6 months of treatment.
- Results showed a 25% reduction in ALS progression rate, stable lung capacity, and a significant decrease in serum neurofilament light chain levels, indicating a positive response to the drug.
- Patients reported high satisfaction with tofersen treatment, showing improved symptom severity and a strong willingness to recommend the drug to others.
Article Synopsis
- The study aimed to evaluate the relationship between serum neurofilament light chain (sNfL) levels and different clinical forms of amyotrophic lateral sclerosis (ALS) in nearly 3000 patients across Germany and Austria.
- Results indicated that sNfL levels varied significantly across ALS phenotypes, with higher levels associated with faster disease progression and bulbar onset, while primary lateral sclerosis (PLS) and some other phenotypes showed lower levels.
- The findings suggest that understanding these phenotypes is crucial for interpreting sNfL results and could influence clinical trials and practice in ALS management.
Article Synopsis
- * Six SOD1-ALS patients were monitored for changes in NfL levels in cerebrospinal fluid and serum, alongside ALS progression rates and functionality scores, revealing a decrease in NfL levels in all participants despite varying progression rates.
- * The results indicate that tofersen may have disease-modifying effects, as the significant decline in NfL levels correlates with ALS progression, reinforcing the potential of NfL as a response biomarker in ALS treatments
Background And Purpose: The objective was to assess the performance of serum neurofilament light chain (sNfL) in amyotrophic lateral sclerosis (ALS) in a wide range of disease courses, in terms of progression, duration and tracheostomy invasive ventilation (TIV).
Methods: A prospective cross-sectional study at 12 ALS centers in Germany was performed. sNfL concentrations were age adjusted using sNfL Z scores expressing the number of standard deviations from the mean of a control reference database and correlated to ALS duration and ALS progression rate (ALS-PR), defined by the decline of the ALS Functional Rating Scale.
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale - a multicenter observational study.
Amyotroph Lateral Scler Frontotemporal Degener
May 2023
Objective: Remote self-assessment of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) using digital data capture was investigated for its feasibility as an add-on to ALSFRS-R assessments during multidisciplinary clinic visits.
Methods: From August 2017 to December 2021, at 12 ALS centers in Germany, an observational study on remote assessment of the ALSFRS-R was performed. In addition to the assessment of ALSFRS-R during clinic visits, patients were offered a digital self-assessment of the ALSFRS-R - either on a computer or on a mobile application ("ALS-App").
Motor-assisted movement exercisers (MME) are devices that assist with physical therapy in domestic settings for people living with ALS. This observational cross-sectional study assesses the subjective experience of the therapy and analyzes users' likelihood of recommending treatment with MME. The study was implemented in ten ALS centers between February 2019 and October 2020, and was coordinated by the research platform Ambulanzpartner.
View Article and Find Full Text PDFBackground And Purpose: This was an investigation of treatment expectations and of the perception of therapy in adult patients with 5q-associated spinal muscular atrophy (5q-SMA) receiving nusinersen.
Methods: A prospective, non-interventional observational study of nusinersen treatment in adult 5q-SMA patients was conducted at nine SMA centers in Germany. The functional status, treatment expectations and perceived outcomes were assessed using the Amyotrophic Lateral Sclerosis Functional Rating Scale-extended (ALS-FRS-ex), the Measure Yourself Medical Outcome Profile (MYMOP2), the Treatment Satisfaction Questionnaire for Medication (TSQM-9) and the Net Promoter Score (NPS).
Background And Purpose: The aim of this study was to investigate utilization rates, treatment pathways and survival prognosis in patients with amyotrophic lateral sclerosis (ALS) undergoing non-invasive (NIV) and tracheostomy invasive ventilation (TIV) in a real-world setting.
Methods: A prospective cohort study using a single-centre register of 2702 ALS patients (2007 to 2019) was conducted. Utilization of NIV/TIV and survival data were analysed in three cohorts: (i) non-NIV; (ii) NIV (NIV without subsequent TIV); and (iii) TIV (including TIV preceded by NIV).
The Helicobacter pylori adhesin BabA binds mucosal ABO/Le(b) blood group (bg) carbohydrates. BabA facilitates bacterial attachment to gastric surfaces, increasing strain virulence and forming a recognized risk factor for peptic ulcers and gastric cancer. High sequence variation causes BabA functional diversity, but the underlying structural-molecular determinants are unknown.
View Article and Find Full Text PDFAdherence of Helicobacter pylori to inflamed gastric mucosa is dependent on the sialic acid-binding adhesin (SabA) and cognate sialylated/fucosylated glycans on the host cell surface. By in situ hybridization, H. pylori bacteria were observed in close association with erythrocytes in capillaries and post-capillary venules of the lamina propria of gastric mucosa in both infected humans and Rhesus monkeys.
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