Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was ...the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients. Here, we report data from the SMArtCARE registry of ambulant patients under nusinersen treatment with a follow-up period of up to 38 months.
SMArtCARE is a disease-specific registry in Germany, Austria and Switzerland. Data are collected as real-world data during routine patient visits. Our analysis included all patients under treatment with nusinersen able to walk independently before start of treatment with focus on changes in motor function.
Data from 231 ambulant patients were included in the analysis. During the observation period, 31 pediatric walkers (27.2%) and 31 adult walkers (26.5%) experienced a clinically meaningful improvement of≥30 m in the 6-Minute-Walk-Test. In contrast, only five adult walkers (7.7%) showed a decline in walking distance≥30 m, and two pediatric walkers (1.8%) lost the ability to walk unassisted under treatment with nusinersen. HFMSE and RULM scores improved in pediatric and remained stable in adult patients.
Our data demonstrate a positive effect of nusinersen treatment in most ambulant pediatric and adult SMA patients. We not only observed a stabilization of disease progression or lack of deterioration, but clinically meaningful improvements in walking distance.
Zusammenfassung
Der Magnetresonanztomographie (MRT) kommt bei der Diagnostik und Verlaufsbeobachtung der Multiplen Sklerose (MS) eine herausragende Bedeutung zu. Jedoch ist zwischen niedergelassen ...Neurologen, (neuro)radiologischen Praxen, Krankenhäusern oder spezialisierten MS-Zentren nur selten eine enge interdisziplinäre Zusammenarbeit etabliert. Es fehlen insbesondere standardisierte MRT-Protokolle zur Bildakquisition sowie etablierte Qualitätsparameter, die die Vergleichbarkeit von MRT-Aufnahmen garantieren. Das ist jedoch eine grundlegende Voraussetzung für den effektiven Einsatz der MRT in der Versorgung von MS-Patienten, z. B. im Rahmen der Diagnosestellung oder des Therapiemonitorings. Zur Adressierung dieser Herausforderungen erarbeitete im Rahmen eines Pilotprojektes im Großraum Essen eine Gruppe aus Neurologen und (Neuro)radiologen unter Anwendung eines modifizierten mehrstufigen Delphi-Prozesses und auf Basis der aktuellsten wissenschaftlichen Untersuchungen einen Konsensvorschlag zur Standardisierung der Bildakquisition, Interpretation und Befundübermittlung und zur Verbesserung der interdisziplinären Zusammenarbeit. Die Empfehlung berücksichtigt medizinische, wirtschaftliche, zeitliche und praktische Aspekte der MRT-Bildgebung bei der MS. Das Modell der interdisziplinären Zusammenarbeit zwischen Radiologen und Neurologen mit dem Ziel der regionalen Standardisierung der Magnetresonanztomographie könnte als Vorbild für andere Regionen Deutschlands dienen, um die MRT-Bildgebung bei der MS zu optimieren.
Magnetic resonance imaging (MRI) is of exceptional importance in the diagnostics and monitoring of multiple sclerosis (MS); however, a close interdisciplinary cooperation between neurologists in ...private practice, (neuro)radiological practices, hospitals or specialized MS centers is only rarely established. In particular, there is a lack of standardized MRI protocols for image acquisition as well as established quality parameters, which guarantee the comparability of MRI records; however, this is a fundamental prerequisite for an effective application of MRI in the treatment of MS patients, e.g., for making the diagnosis or treatment monitoring. To address these challenges a group of neurologists and (neuro)radiologists developed a consensus proposal for standardization of image acquisition, interpretation and transmission of results and for improvement in interdisciplinary cooperation. This pilot project in the metropolitan area of Essen used a modified Delphi process and was based on the most up to date scientific knowledge. The recommendation takes the medical, economic, temporal and practical aspects of MRI in MS into consideration. The model of interdisciplinary cooperation between radiologists and neurologists with the aim of a regional standardization of MRI could serve as an example for other regions of Germany in order to optimize MRI for MS.
To understand the genesis of urinary stones different crystallization models have been developed to simulate the crystallization processes that occur at the beginning of the stone formation. In this ...study a laser probe working on the principle of the measurement of back-scattered light was mounted on a batch crystallization model, in which calcium oxalate nucleation was induced by titration of an artificial urine with ammonium oxalate. With the laser probe the particle numbers and particle size distributions in the range from 1-250 microm can be measured in a single experiment. Measurement is performed directly at the place of crystal development and, therefore, falsification of the results (by dilution, mechanical transport or isolation, temperature gap, multiple measurements, mathematical calculations after indirect measurements, etc.) is prevented. In a basic urine, containing 7.5 mmol/l calcium (4.13 mmol/l free calcium), nucleation of calcium oxalate appears at a concentration of 0.58 mmol/l oxalate. At the start of nucleation the particle size rises to 7 microm. After addition of citrate and magnesium in concentrations up to 12 mmol/l the metastable limit is clearly shifted up to 1.50 mmol/l oxalate. Both findings are in good agreement with the literature. The laser crystallization model has proved to be useful for the testing of inhibitors and promoters of urinary stone formation.
