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The asthma medication theophylline is a suitable drug for treating the rare neurological disorder ADCY5-related dyskinesia. This is the result of a new study by Martin Luther University Halle-Wittenberg (MLU), which was published in the journal "Movement Disorders". Patients reported a significant improvement in their symptoms and quality of life. The disease is caused by a rare genetic defect that causes twitching and uncontrolled movements starting as early as in infancy. There is currently no cure for ADCY5-related dyskinesia.
"Two years ago, we partnered with the University of Leipzig Medical Centre to treat a then five-year-old patient with theophylline," says Professor Andrea Sinz from the Institute of Pharmacy at MLU. "Positive effects of caffeine on the disease had already been reported in the USA. However, the effects were only short-term. Therefore, we looked for a drug with a similar chemical structure that was also approved for children." The pilot study with the asthma drug yielded impressive results: the child, who had previously been in a wheelchair, had significantly fewer muscle twitches. After a few months of treatment, they were able to walk independently and speak more clearly.
In order to place the results of the initial case study on a broader base, Sinz’s group examined twelve patients with ADCY5-related dyskinesia as part of the new study. The patients lived in seven countries and ranged in age from two to 41 years. Estimates put the total number of cases of ADCY5-related dyskinesia at around 400 worldwide. The patients or their parents were asked to fill out a questionnaire about their experiences during treatment with theophylline. "Of course, we got the attending physicians on board first, informed them of our previous findings, and discussed the treatment with them. As this is an extremely rare disease, there is little knowledge about it in general," explains Sinz. The researchers at MLU cooperated with Professor Andreas Merkenschlager from the University of Leipzig Medical Centre, who was also part of the previous study.
The results are promising: eleven out of the twelve participants reported a significant reduction in movement impairment. The average improvement with theophylline was rated 7.0 on a ten-point scale. The changes included less frequent and milder episodes of uncontrolled movements, improved gait, better psychosocial well-being, and better quality of sleep. Side effects such as muscle tension, headaches, nausea, sleep disorders and restlessness were rather rare. Only the oldest patient, aged 41, reported no significant improvements. "In our experience, it is advisable to begin treatment with the drug as soon as the diagnosis has been made - the sooner, the better," says Andrea Sinz. In the study, several parents reported that their children were able to make up for any developmental delays by taking theophylline. One two-year-old child, who began treatment immediately after diagnosis, has not shown any serious symptoms to this day. Future research should clarify whether treatment outcomes can be further improved by optimising the dosage of theophylline.
However, the asthma medication is not a cure for ADCY5-related dyskinesia. "The disease is the result of a genetic defect that causes the overproduction of a messenger substance in the human body. Ultimately, this defect can only be corrected by gene therapy," explains Sinz. Currently, it is not possible to estimate of and when this kind of therapy will be available to patients. Until then, theophylline could prove to be an effective interim therapy to alleviate suffering, particularly in children, and significantly improve their quality of life.
Study: Taenzler D., Hause F., Merkenschlager A., Sinz A. Treatment Efficacy of Theophylline in ADCY5-Related Dyskinesia: A Retrospective Case Series Study. Movement Disorders (2025). doi: doi.org/10.1002/mds.30170
https://doi.org/10.1002/mds.30170
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