Asthma Medication Shows Promise for Rare Neurological Condition

A recent study from Martin Luther University Halle-Wittenberg indicates that the asthma medication theophylline may be effective in treating ADCY5-related dyskinesia, a rare neurological disorder. This condition, stemming from a genetic defect, leads to involuntary movements and muscle twitches that can begin in infancy.

Currently, there is no definitive cure for ADCY5-related dyskinesia. Theophylline, a drug commonly used for asthma, was explored as a potential treatment after positive effects of caffeine were reported in similar cases in the United States, albeit with temporary results. Researchers sought a more stable alternative that is also approved for pediatric use.

In a pilot study, theophylline was administered to a 5-year-old patient, who had been reliant on a wheelchair. Following treatment, the patient demonstrated significant improvements, including reduced muscle twitches, increased mobility, and clearer speech.

To validate these findings, the research team expanded their study to include 12 patients across seven countries, aged between 2 and 41 years. The total estimated global prevalence of ADCY5-related dyskinesia is around 400 cases. Participants and their guardians completed questionnaires to report their experiences with theophylline treatment.

Prior to initiating treatment, the research team collaborated with attending physicians to inform them of preliminary findings and discuss treatment plans, given the rarity of the disorder and the limited existing knowledge surrounding it. The results from the broader study were encouraging: 11 out of the 12 participants reported notable reductions in movement impairments, with an average improvement rating of 7.0 on a 10-point scale. Benefits included less frequent and milder involuntary movements, improved walking ability, enhanced psychosocial well-being, and better sleep quality. Notably, side effects such as muscle tension, headaches, nausea, and restlessness were infrequently reported, with only one participant--the oldest at 41 years--indicating no significant improvements.

Experts recommend starting treatment as soon as a diagnosis is made, as early intervention appears to facilitate better outcomes. Some parents reported that their children were able to overcome developmental delays with timely treatment. For instance, a 2-year-old patient who began theophylline treatment shortly after diagnosis has shown no serious symptoms to date. Future research may focus on optimizing the dosage of theophylline to further enhance treatment efficacy.

It is essential to note that while theophylline demonstrates potential as a supportive therapy, it does not address the underlying genetic defect that causes ADCY5-related dyskinesia. The condition arises from the overproduction of a specific messenger substance in the body, and the only definitive solution would be gene therapy. However, the timeline for such therapies remains uncertain. Until then, theophylline may serve as a viable interim treatment to alleviate symptoms and significantly improve quality of life, particularly in children affected by this condition.