Ben Gurion University researchers have made another breakthrough

A new groundbreaking study conducted in Israel could be a game changer for the way hereditary muscle diseases are treated. In a sign that the new treatment has potential for massive success, a hereditary muscular disease that typically leads to complete immobility and death has, for the first time ever, been treated in an effective manner. 

The drug developed was given to a patient who was near death due to his muscle decay while being completely immobile, and fully dependent on artificial ventilation for over a year. Not only did the drug stop the deterioration,  but it actually helped to improve the patient's mobility, while restoring muscle effectiveness. The Patient can now breathe without support for hours at a time, move her arms and legs in all directions, and according to the report, is even strong enough to feed her grandchild.

According to the research paper, the process began "through homozygosity mapping and whole exome sequencing, followed by functional analysis using confocal microscopy and biochemical and biophysical methods, we demonstrate that a distinct form of human limb-girdle muscular disease is caused by a pathogenic homozygous loss-of-function missense mutation in HMG CoA reductase (HMGCR), encoding HMG CoA-reductase."

The novel drug, which was developed by researchers from the Ben Gurion University of Be’er Sheva and the Soroka Medical Center near Tel Aviv, contains a synthesized product that included an enzyme that creates methylmevalonolactone, a substance that patients with Limb Girdle Muscular Dystrophy (LGMD) lack. 

The researchers involved in the breakthrough medical project estimate that there are dozens to hundreds of people in Israel alone affected by this hereditary disease that could benefit from this effective, life-saving treatment. This was the first time a human had been treated with the drug used in the study. Up until now, the research team had been testing the novel medication’s safety on mice, in accordance with Israeli regulatory laws for medical laboratories.

After months of testing the treatment on mice, the research team was given a permit to conduct their study on humans. This special process existing in Israeli law for medical study allows terminally ill patients who meet certain medical criteria access to drugs still undergoing clinical trials. 

Due to the early success in the human trial phase, other patients, some of whom are already in the late stages of LGMD, are awaiting treatment. LGMD develops around the age of 40 years, progressing to complete immobility of the limbs and chest muscles within a decade, necessitating full-time ventilation and eventually resulting in death. 

In mouse model trials, mimicking humans who experience these symptoms, the medication was shown to be extremely effective. The study was first fully published recently in the Proceedings of the National Academy of Sciences (PNAS) of Israel and is being supported by the Israel Science Foundation.

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