Israeli researchers have developed a drug that is effective in treating a rare genetic muscle disease.
The research team from Ben-Gurion University of the Negev and Soroka Medical Center discovered the severe hereditary muscle disease that develops around the age of 40 years, progressing to complete immobility of the limbs and the chest muscles.
The team demonstrated that the disease is caused by a mutation in the gene encoding HMG CoA reductase, inhibiting the enzyme’s activity. They synthesised and purified Methylmevalonolactone, the normal product of HMG CoA reductase, which is lacking in those patients.
Following testing for safety in mice, the team got an exceptional ‘compassionate use’ permit to give the novel medication 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 medication (orally, three times a week) for more than a year, with no side effects. Not only did she stop deteriorating, she has improved dramatically: she can breathe without support for hours at a time, move her arms and legs extensively and even feed her grandchild.
Other patients, some of whom are already in late stages of the disease, are awaiting treatment. The researchers estimate that there are dozens to hundreds of people that could benefit from the effective life-saving treatment.
Potential therapy for statin myopathy
Based on the successful treatment of the hereditary disease, the research group went on to test whether the medication can be effective in the treatment of the non-remitting muscle problems occurring in ~1% of statin users.
They showed that the medication 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.
The entire study was done as part of the PhD thesis of Dr Yuval Yogev, guided by Prof Ohad Birk, Head of the Morris Kahn Laboratory of Human Genetics at Ben-Gurion University and Director of the clinical genetics institute at Soroka Medical Center.
Based on the findings, the research team are now seeking financial support / collaboration with the pharmaceutical industry to push forward standardised production and licensing of the medication.
