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Facioscapulohumeral Dystrophy (FSHD) is the second most common muscle disease and lacks any pharmaceutical treatment. In 2019 a phase II trial started in the Radboudumc, which involved taking muscle biopsies from participants. Currently, many possible drugs are reaching the end of their preclinical studies phase and will soon be tested in patients. It is highly likely that these studies will also involve muscle biopsies to determine the target engagement of the drug in the muscle cells. However, it was unclear how the participants experienced the biopsies and if patients were willing to undergo subsequent biopsies.
Joost Kools and Nicol Voermans, researchers at the Neurology (Neuromuscular) department, created a questionnaire to retrospectively ask Dutch FSHD patients who underwent a muscle biopsy for research purposes about the pain levels, complications, overall experience and willingness to undergo subsequent biopsies. The results of this study were published in Neuromuscular Disorders on Apr 6 2023 and was awarded to be the best poster at the yearly international FSHD conference.
Muscle biopsies were experienced as more painful and resulted in more complications than initially expected. However, the pain levels decreased quickly and were considered low 24 hours after a muscle biopsy. The most common complication were hematomas, muscle weakness and numbness of the skin. The large majority of these complications resolved within thee days. Despite the high burden of the biopsies, more than half of the participants were willing to undergo subsequent biopsies for research purposes.
The researches also made a comparison between biopsies performed in the clinic and biopsies performed in an MRI machine, which differ slightly in their method. It was hypothesized and confirmed that the biopsies in the MRI machine were more painful and resulted in more complications.
This study will hopefully result in more careful considerations by pharmaceutical companies of when to incorporate muscle biopsies in clinical trials. The researchers acknowledge that muscle biopsies will remain an important measure for clinical trials, but should be kept to a minimum.
Read the publication here
Kools J, Aerts W, Niks EH, Mul K, Pagan L, Maurits JSF, Thewissen R, van Engelen BG, Voermans NC. Assessment of the burden of outpatient clinic and MRI-guided needle muscle biopsies as reported by patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2023 May;33(5):440-446. doi: 10.1016/j.nmd.2023.04.001. Epub 2023 Apr 6. PMID: 37099913.
