Neuromuscular diseases: Research highlights 2026 – No. 4
In this new research highlight, discover information on executive functions in Duchenne muscular dystrophy, the development of new gene therapy vectors and a study on lactate measurement.
Delayed development of executive functions in Duchenne muscular dystrophy
In Duchenne muscular dystrophy (DMD), the development of the brain’s executive functions – meaning the set of neurocognitive processes that allow us to voluntarily regulate our thoughts, actions and emotions – appears delayed during childhood. This is shown by a study involving 70 boys with DMD evaluated at ages 5, 8, 11 and 14 years, and over a three-year period for 13 of them, with assessments between ages 5 and 8, 8 and 11, and 11 and 14 years. Their so-called “cold” executive functions (involved in rational tasks) and “hot” executive functions (involved in emotionally significant situations) were assessed using performance tests and parent-completed questionnaires. At age 5, executive functions were similar to those of unaffected children of the same age, whereas delays were observed at age 11. Although still present at age 14, these delays tended to improve between ages 11 and 14. In addition, alterations in “hot” executive functions were identified as early as age 8. These findings, which should be confirmed in a patient group up to 20 years old, could contribute to the development of personalised strategies to help children and their parents manage these developmental delays.
New gene therapy vectors to minimise immune-related issues
Current gene therapies generally use an adeno-associated virus (AAV) to deliver the corrective gene into patients’ cells. The problem is that many people already have, or develop, antibodies against these viruses, which can block treatment or prevent re-administration. Researchers have developed new vectors derived from a duck virus (AAV.div3A). Because they are very different from viruses infecting humans, they are “invisible” to our immune system. Tested in mouse models of Pompe disease, the results are highly promising. The use of these new vectors could increase the number of patients eligible for gene therapy.
A lactate sensor to monitor muscle activity in real time
Lactate is a molecule produced by the body during energy production. Its levels become abnormally high during exercise in certain diseases. However, current lactate sensors are generally designed for sweat and struggle to function under mechanical stress such as muscle contractions. An American team developed a flexible and implantable lactate microsensor capable of detecting low concentrations (0.2 to 40 mM) such as those found in muscle tissue. To test it, the researchers used a hydrogel model simulating resting and contracting muscle. The sensor demonstrated good mechanical stability and rapid measurement capability. This approach could enable real-time metabolic monitoring of muscle during physical activity and help facilitate the diagnosis of certain diseases, particularly metabolic myopathies.