We introduce this important piece of research making use of a comment from Prof. Massimiliano Filosto, vice president of the UILDM medical-scientific commission and clinical director of NeMO Brescia and leader of the AIM-FSHD group that the FSHD patients of UILDM's Group have consulted to learn more.

CRISPR/Cas9 system is a kind of 'molecular scissors' that can be programmed to cut at a specific point in the genome. This is possible thanks to the RNA guide which, modified in the laboratory for recognizing a specific sequence of interest, acts as a kind of "leash" by anchoring Cas9 to the target sequence.

CRISPR/Cas9 system, then, initially discovered in bacteria, has quickly become the subject of extensive studies for its potential use in human pathology. In fact, it can allow the precise modification of the human genome, eliminating, for example, mutated DNA sequences and potentially making possible the treatment of genetic diseases not otherwise treatable.

 The enormous potential offered by this "molecular scissors" are the subject of continuous studies in order to make the method more and more reliable for application in humans and reduce the risk of possible cutting errors, the so-called off-target." 


 Epic Bio, based in the San Francisco Bay Area, announced that FSHD is the first disease it plans to take on with its proprietary CRISPR technology.

Founded by Stanley Qi, PhD, a co-inventor of the Nobel Prize-winning CRISPR patent held by the University of California, Epic Bio has developed a form of CRISPR that can target highly specific regions of the genome without cutting the DNA. Their technology then delivers molecules called Cas9 that modify that part of the genome in order to interfere with a disease-causing process. For example, Cas9 can be designed to activate or inactivate a gene in the target region. This makes it well suited to dial down the expression of DUX4, the gene that causes FSHD.

In laboratory experiments, the “results demonstrate the utility of our dCas to suppress DUX4 expression by up to 95%,” said Amber Salzman, PhD, chief executive officer of Epic Bio. “We view this to be a tremendous step forward to finding a one-and-done treatment for this debilitating disease.

“Following on from this, we have submitted a request to the FDA for a pre-IND meeting to align on the IND submission package and Phase 1 clinical design,” Salzman continued. IND stands for Investigational New Drug, the designation awarded by the US Food and Drug Administration when it allows a new drug to be tested in human clinical trials.

Epic Bio’s proprietary Gene Expression Modulation System (GEMS) platform “integrates its dCas proteins with customized guide RNA and modulator proteins to develop effective and safe approaches to treat diseases,” the company said. “Epic Bio’s dCas proteins are half the size of standard Cas9 proteins, thus enabling Epic Bio to deliver single AAV (adeno-associated virus) vectors to all tissues and organs.” A more efficient viral delivery system would presumably reduce the potential for toxic side effects.

In addition to its initial focus on facioscapulohumeral muscular dystrophy, Epic Bio is conducting research to address alpha-1 antitrypsin deficiency (AATD), heterozygous familial hypercholesterolemia (HeFH), as well as other indications. The company is financially backed by Horizons Ventures and other leading investors and has raised $55 million. 


Courtesy of FSHD Society

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