Last Updated on January 3, 2024 by The Health Master
Drug for hereditary muscle disease
A research team from Ben-Gurion University of the Negev and Soroka Medical Center has discovered a new drug / medication that can treat a severe hereditary muscle disease.
The disease develops around the age of 40 and eventually leads to complete immobility of limbs and chest muscles, requiring full-time artificial ventilation and eventually death.
The team has also found that the drug / medication can be effective in treating non-remitting muscle problems in statin users.
Discovering the cause of the disease
The research team has found that the severe hereditary muscle disease is caused by a mutation in the gene that encodes HMG CoA reductase. This mutation inhibits the activity of the enzyme, which leads to the disease.
Synthesizing and purifying the drug / medication
To cure the disease, the research group synthesized and purified Methylmevalonolactone, the normal product of HMG CoA reductase, which is lacking in those patients.
After testing for safety in mice, the team got an exceptional “compassionate use” permit to give the novel drug / medication, never given to humans before, to the most severely affected patient, who was near death – completely immobile and fully dependent on artificial ventilation.
The patient has now been treated with the drug / medication (orally, three times a week) for more than a year, with no side effects.
The success of the drug / medication
The drug / medication has proven to be effective in treating the disease. The patient who received the treatment stopped deteriorating and has improved dramatically.
She can breathe without support for hours at a time, move her arms and legs extensively and even feed her grandchild.
The researchers estimate that there are dozens to hundreds of people affected by this hereditary disease – that could benefit from this effective life-saving treatment.
Treatment for statin users
The drug has also been found to be effective in treating non-remitting muscle problems in ~1% of statin users.
The team showed that the drug was extremely effective in a mouse model system mimicking human statin myopathy. This is the first study to link muscle pain and weakness to statin use.
Pushing forward production and licensing of the drug
Based on the successful treatment of the hereditary disease and the effectiveness of the drug in treating non-remitting muscle problems in statin users, the research team is seeking financial support/collaboration with the pharma industry to push forward standardized production and licensing of the drug.
This will save the lives of many individuals worldwide suffering from this hereditary disorder, as well as enabling treatment of tens of thousands of statin-myopathy patients.
worldwide suffering from this hereditary disorder, as well as enabling treatment of tens of thousands of statin-myopathy patients.
The study was supported by the Israel Science Foundation and published in the Proceedings of the National Academy of Sciences (PNAS).
Conclusion:
In conclusion, the research team from Ben-Gurion University and Soroka Medical Center have discovered a severe hereditary muscle disease caused by a mutation in the gene encoding HMG CoA reductase, and have successfully treated the disease with a novel drug synthesized and purified by the team.
The drug has also been shown to be effective in treating non-remitting muscle problems occurring in statin users.
The researchers are now seeking financial support and collaboration with the pharmaceutical industry to standardize production and licensing of the drug to save the lives of individuals suffering from this hereditary disorder and tens of thousands of statin-myopathy patients worldwide.
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