Newswise — X-linked adrenoleukodystrophy (X-ALD) is the most common of about 50 rare diseases of the white matter of the brain, a group of so-called leukodystrophies. Thing. Affected males suffer progressive leg paralysis, poor balance and sensory disturbances, and develop incontinence and sexual dysfunction. Despite inheritance through the X chromosome, female gene carriers can also be affected. There is a nature. About 30% of boys and 60% of adult males develop encephalitis and die within 2-3 years. Worldwide, the disease affects about 1 in 20,000 births of her.
Now, for the first time, scientists from all relevant leukodystrophy centers in Europe and the US have successfully collaborated to obtain controlled trial data for X-linked adrenoleukodystrophy. Of the 116 patients, 77 received religlitazone and 39 received placebo. The drug had already shown in preclinical studies that it could prevent neurodegeneration and protect against life-threatening brain inflammation. “In fact, our clinical trial showed that none of the patients who took this drug were affected by brain inflammation. In contrast, 15% of the participants who received the placebo developed this life-threatening disease within two years,” explains study leader and first author Dr. Wolfgang Köhler, director of the Leukodystrophy Outpatient Clinic in Neurology. at Leipzig University Hospital.
The actual aim of this study was to show that the drug did not worsen gait disturbance in patients with X-ALD over two years. “This was particularly effective in patients treated early. The more advanced the gait disturbance, the less pronounced its effects. Overall, there was no significant difference, so the study’s actual objective was not achieved.” No,” explains Dr. Köhler. Nevertheless, clinical efficacy of the new drug was demonstrated in many respects. In addition to indications that it can prevent inflammation in the brain, other effects included improvements in neurological conditions such as balance disorders that positively impacted quality of life.
The Committee for Medicinal Products for Human Use (CHMP) of the European Medicines Agency (EMA) is currently reviewing a Marketing Authorization Application by Spanish pharmaceutical company Minoryx for religlitazone for the treatment of adult male patients with X-ALD. This research was sponsored by his Minoryx.
As part of an open-label extension study, all participants in this study now have the option to continue treatment with religlitazone for a total of five years. Additionally, follow-up studies in patients with pre-existing brain involvement are planned. “This gives us hope that in the future, we will be able to effectively treat patients with advanced inflammatory brain lesions, especially those who can no longer be helped by stem cell transplants. only possible,” explains Dr. Koehler.
A center for myelin disorders, including leukodystrophy and multiple sclerosis, will be established at Leipzig University Hospital by the end of this year and will be the first of its kind in Germany. “In such a rare disease, it is of paramount importance to bring together therapeutic and research excellence from different fields to jointly gain new insights and make further progress.”