For the first time, clinicians from the Neuromuscular Diseases Reference Centres looked at the spermatogenesis of 68 men with proximal spinal muscular atrophy (SMA) before starting treatment with risdiplam, a drug likely to cause fertility problems.
- Of the participants, 36 had type II SMA and 32 had type III SMA, who were followed up between June 2022 and July 2023 in 13 French Reference Centres.
- High levels of infertility (40%) were found, linked to spermogram abnormalities.
- They are correlated with the severity of SMA: the frequency of fertility problems increases with the severity of SMA and is inversely correlated with the number of copies of SMN2, weight, height and motor function scores (MFM and RULM).
- The MFM also showed a positive correlation between sperm count and the severity of SMA.
The authors suggest a systematic study of sperm counts in men with SMA before and after treatment (particularly risdiplam).
