Neuroscience team from Bochum and Utrecht investigates the use of quantitative MRI methods in genetic muscle diseases.

Muscular dystrophies are a group of incurable diseases. The muscles gradually break down, become weaker and weaker and are replaced by fatty deposits. In a study, researchers at Ruhr-Universität Bochum in cooperation with the University Medical Center Utrecht have now investigated how quantitative magnetic resonance imaging (MRI) can help to document the progression of these muscle diseases and evaluate new therapeutic approaches in the future.
The scientists succeeded in visualizing changes in the muscles within a year and determining the exact extent of the damage. The results of the study were published on May 25 in the journal “NMR in Biomedicine”.

Expected early warning system brought a surprising result

The research team focused on limb-girdle muscular dystrophy, a rare group of genetically confirmed muscle diseases that is initially characterized by muscle weakness and atrophy in the shoulder and pelvic girdle. As the disease progresses, it spreads to the upper and lower extremities. A total of 13 patients with limb-girdle muscular dystrophy were examined over a period of one year. "Our aim was to use quantitative MRI of the leg muscles to detect early indications of an imminent progression of the disease," describes first author Dr. Johannes Forsting.

The researchers discovered that the proportion of fat increased significantly during the one-year study period, particularly in the moderately damaged muscles. Signs of inflammation were also detected in the muscles that were still in good condition. Another expected abnormality, however, was not detected by the scientists. "Based on a previous study, we had expected to be able to detect structural changes and thus identify a kind of early warning system," says PD Dr. Lara Schlaffke, who led the study at the BG University Hospital Bergmannsheil in Bochum. The observation period of one year would obviously have been too short to detect such changes using quantitative MRI.

There were many different forms of neuromuscular diseases, explains the Schlaffke, who is a Principal Investigator at the Research Department of Neuroscience (RDN) at RUB. Most of them were very rare. However, there were increasingly new therapeutic approaches for some of them that would slowly come onto the market. The research results would show encouraging possibilities here. "In order to evaluate and develop new concepts in detail, non-invasive, objective biomarkers are needed that provide specific and early information about the state of the muscles," Forsting continues. The use of quantitative MRI could be a valuable tool in the future.

Improved treatment methods for an increased quality of life

"Our aim is to develop a method that can be used in everyday clinical practice in a medium-term perspective," concludes Schlaffke. "The results represent an important step on the way to improved treatment methods and an increased quality of life for patients."

Background information on "Limb-girdle muscular dystrophy"
Limb-girdle muscular dystrophy is a group of rare diseases. In Germany, the number of patients is estimated to be between 500 and 5000. Onset ranges from infancy to adulthood. Both mild and severe forms are possible. Cardiac, respiratory and swallowing difficulties may occur, but do not necessarily have to. A cure for these diseases is not yet available.

Funding:
The publication was funded by the FoRUM research funding of the Faculty of Medicine of Ruhr-University Bochum and the Collaborative Research Centre 874 (SFB 874) of the German Research Foundation. The SFB 874 "Integration and Representation of Sensory Processes" existed from 2010 to 2022 at Ruhr-Universität Bochum.

Original publication:
Forsting J, Wächter M, Froeling M, Rohm M, Güttsches AK, De Lorenzo A,  Südkamp N, Kocabas A, Vorgerd M, Enax-Krumova E, Rehmann R, and Lara Schlaffke (2024) Quantitative muscle MRI in limb-girdle muscular dystrophy type R1 (LGMDR1): a prospective longitudinal cohort study. NMR in Biomedicine. Doi: 10.1002/nbm.5172

Link to publication:
https://pubmed.ncbi.nlm.nih.gov/38794994/

Contact:
PD Dr. Lara Schlaffke
Arbeitsgruppe Neuroimaging
Neurologische Klinik und Poliklinik
Medizinische Fakultät
Berufsgenossenschaftliches (BG( Universitätsklinikum Bergmannsheil Bochum
Tel: +49 (0)234 302-3449
Email: lara.schlaffke@ruhr-uni-bochum.de

Text:
Anke Maes

Photo:
SFB 874/ Susanne Troll