Janbernd Kirschner
A5014011351- Neurogenetic and Muscular Disorders Research
- Muscle Physiology and Disorders
- RNA modifications and cancer
- Congenital Anomalies and Fetal Surgery
- Cardiomyopathy and Myosin Studies
- RNA Research and Splicing
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Hereditary Neurological Disorders
- Cerebral Palsy and Movement Disorders
- Cardiac Structural Anomalies and Repair
- Nuclear Structure and Function
- Muscle activation and electromyography studies
- Family and Disability Support Research
- RNA Interference and Gene Delivery
- Botulinum Toxin and Related Neurological Disorders
- Prosthetics and Rehabilitation Robotics
- Myasthenia Gravis and Thymoma
- Amyotrophic Lateral Sclerosis Research
- Health Systems, Economic Evaluations, Quality of Life
- Cancer-related gene regulation
- Glycogen Storage Diseases and Myoclonus
- Peripheral Neuropathies and Disorders
University of Freiburg
2016-2025
University Medical Center Freiburg
2016-2025
Klinik für Neuropädiatrie und Muskelerkrankungen
2009-2025
German Cancer Research Center
2024
Heidelberg University
2024
St. Josef-Hospital
2024
University Hospital Bonn
2007-2022
Zentrum für Kinderheilkunde
2019-2021
University of Bonn
2007-2021
University of Ljubljana
2021
Spinal muscular atrophy is an autosomal recessive neuromuscular disorder that caused by insufficient level of survival motor neuron (SMN) protein. Nusinersen antisense oligonucleotide drug modifies pre–messenger RNA splicing the SMN2 gene and thus promotes increased production full-length SMN
Nusinersen is an antisense oligonucleotide drug that modulates pre–messenger RNA splicing of the survival motor neuron 2 (SMN2) gene. It has been developed for treatment spinal muscular atrophy (SMA).
Analyzing the type and frequency of patient-specific mutations that give rise to Duchenne muscular dystrophy (DMD) is an invaluable tool for diagnostics, basic scientific research, trial planning, improved clinical care. Locus-specific databases allow collection, organization, storage, analysis genetic variants disease. Here, we describe development TREAT-NMD DMD Global database (http://umd.be/TREAT_DMD/). We analyzed data 7,149 held within database. A total 5,682 large were observed (80%...
This is the second half of a two-part document updating standard care recommendations for spinal muscular atrophy published in 2007. part includes updated on pulmonary management and acute issues, topics that have emerged last few years such as other organ involvement severe forms role medications. Ethical issues choice palliative versus supportive are also addressed. These becoming increasingly relevant given recent clinical trials prospect commercially available therapies will likely...
<h3>Importance</h3> Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain complex defects are particularly difficult to diagnose at the molecular level because massive number nuclear genes potentially involved in intramitochondrial protein synthesis, with many not yet linked human disease. <h3>Objective</h3> To determine basis multiple deficiencies. <h3>Design, Setting, and Participants</h3> We studied...
Objective: Spinal muscular atrophy (SMA) is a progressive autosomal recessive motor neuron disease caused by loss of the SMN1 gene.Based on randomized clinical trials in children with SMA type 1 and 2, Nusinersen has been approved as first treatment for all types SMA, including adults 3. Methods: We evaluated safety effects longstanding adult 5q-SMA Patients were treated intrathecal loading doses at day 1, 14, 28 63, followed maintenance dose every four months up to 300 days.We monitored...
Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen dosage.To compare efficacy adverse effects of 3 most frequently prescribed corticosteroid regimens dystrophy.Double-blind, parallel-group randomized clinical trial including 196 aged 4 to 7 years dystrophy who had not previously been treated corticosteroids; enrollment occurred between January 30, 2013, September 17, 2016, at 32 clinic sites 5...
Abstract Introduction/Aims NURTURE (NCT02386553) is an open‐label study of nusinersen in children (two SMN2 copies, n = 15; three 10) who initiated treatment the presymptomatic stage spinal muscular atrophy (SMA). A prior analysis after ~3 y showed benefits on survival, respiratory outcomes, motor milestone achievement, and a favorable safety profile. An additional 2 follow‐up (data cut: February 15, 2021) are reported. Methods The primary endpoint time to death or intervention (≥6 h/day...
Abstract Risdiplam is an oral, survival of motor neuron 2 ( SMN2 ) pre-mRNA splicing modifier approved for the treatment spinal muscular atrophy (SMA). SUNFISH (NCT02908685) Part 2, a Phase 3, randomized, double-blind, placebo-controlled study, investigated efficacy and safety risdiplam in type non‑ambulant 3 SMA. The primary endpoint was met: significantly greater change from baseline 32-item Motor Function Measure (MFM32) total score observed with compared placebo at month 12. After 12...
Background: Long-term, real-world effectiveness and safety data of disease-modifying treatments for spinal muscular atrophy (SMA) are important assessing outcomes providing information a larger number broader range SMA patients than included in clinical trials. Objective: We sought to describe with treated onasemnogene abeparvovec monotherapy the setting. Methods: RESTORE is prospective, multicenter, multinational, observational registry that captures from variety sources. Results:...
Evidence for the efficacy of nusinersen in adults with 5q-associated spinal muscular atrophy (SMA) has been demonstrated up to a period 16 months relatively large cohorts but whereas patients reach plateau over time is still be demonstrated. We investigated and safety SMA 38 months, longest date cohort from multiple clinical sites. Our prospective, observational study included adult Germany, Switzerland, Austria (July 2017 May 2022). All participants had genetically-confirmed, were treated...
Presenting symptoms, clinical course and paraclinical findings in childhood Guillain-Barré syndrome (GBS) have rarely been investigated prospectively. We performed a multicentre study GBS diagnosed according to international criteria. Clinical were recorded using an ordinal score additional scores for arm, cranial nerve vegetative function, pain. Electrophysiological CSF investigations followed individual procedures the local hospitals. Ninety-five children with median age of 6.2 years...