Researchers in Japan have recently conducted a clinical study and tried to understand the safety of long-term administration of a therapeutic drug for patients with Distal myopathy with rimmed vacuoles or GNE myopathy. It is a rare condition that causes muscle weakness and increases the risk of walking inability.
This condition is characterized by muscle atrophy and degeneration in distal limbs such as fingers and ankles. Symptoms typically appear in teens to early 30s and cause profound motor control loss and affect the quality of life. Hence, it needs proper treatment and more attention. But there are no approved treatments available to treat this condition.
One of the researchers, Masashi Aoki, said that developing a treatment to reduce the progression of symptoms of this condition is very difficult because it is rare to find. There are only around 400 people that are living with it in Japan.
A treatment for a small population is considered as an “ultra orphan drug” as it is not profitable for pharmaceutical companies to develop. Hence, it leaves these patients without any medical assistance.
Researchers have developed a treatment for GNE myopathy patients who have reduced the function of an enzyme-producing sialic acid by administering a drug that contains aceneuramic acid to supplement this deficit.
Researchers conducted phase I and II/III studies and an efficacy confirmation study that was sponsored by Nobelpharma Co., Ltd. They wanted to check the effectiveness of Aceneuramic Acid (Acenobel) Extended Release Tablets 500mg for GNE myopathy.
In this study, researchers involved 19 patients with GNE myopathy who completed a 72-week treatment plan without experiencing any major adverse effects. This study was then extended from a 48-week double-blind study to 72 weeks for this trial.
The results of this study were recently published in the Journal of Neurology, Neurosurgery, and Psychiatry and they have confirmed the safety and efficacy of this treatment. This led to official manufacturing and marketing approval from Japan’s Ministry of Health, Labor and Welfare in March 2024. This treatment is very important as it can provide patients with a safe and effective treatment option for this rare condition.
But the research team plans to continue assessing the treatment’s effectiveness for extended periods to understand more about it.
This study is very important as it can help those who are suffering from Distal myopathy with rimmed vacuoles or GNE myopathy. Experts should consider the results and develop some treatments and strategies that can reduce the risk of muscle weakness.
