Spanning multiple countries in Europe, it has launched the European Trial Network. Notable cases
Chip Wilson is a Canadian billionaire and founder of Lululemon. He has pledged 100 million Candian dollars to research through the venture Solve FSHD. Chris Carrino is the radio voice of the Brooklyn Nets. He founded the Chris Carrino Foundation for FSHD, oriented towards research funding. Morgan Hoffman is an American professional golfer. He started the Morgan Hoffman Foundation, oriented towards research funding. Research directions
Pharmaceutical development
After achieving consensus on FSHD pathophysiology in 2014, researchers proposed four approaches for therapeutic intervention:
enhance the epigenetic repression of the D4Z4
target the DUX4 mRNA, including altering splicing or polyadenylation;
block the activity of the DUX4 protein
inhibit the DUX4-induced process, or processes, that leads to pathology.Small molecule drugs
Most drugs used in medicine are "small molecule drugs," as opposed to biologic medical products that include proteins, vaccines, and nucleic acids. Small molecule drugs can typically be taken by ingestion, rather than injection. Losmapimod, a selective inhibitor of p38α/β mitogen-activated protein kinases, was identified by Fulcrum Therapeutics as a potent suppressor of DUX4 in vitro. Results of a phase IIb clinical trial, revealed in June 2021, showed statistically significant slowing of muscle function deterioration. Further trials are pending. Casein kinase 1 (CK1) inhibition has been identified by Facio Therapies, a Dutch pharmaceutical company, to repress DUX4 expression and is in preclinical development. Facio Therapies claims that CK1 inhibition leaves myotube fusion intact, unlike BET inhibitors, p38 MAPK inhibitors, and β2 agonists.Gene therapy
Gene therapy is the administration of nucleotides to treat disease.
Dolichocolon is an abnormally long large intestine. It should not be confused with an abnormally wide large intestine, which is called a megacolon.Dolichocolon may predispose to abnormal rotation (see volvulus) and interposition between the diaphragm and the liver (see Chilaiditi syndrome). It is more commonly seen in the elderly, some psychiatric patients or in institutionalised individuals. It is not, however, a part of normal aging. The exact cause remains unknown.Dolichocolon is often an incidental finding on abdominal X-rays or colonoscopy. It is not by itself a disease and as such requires no treatment. The term is from ancient Greek dolichos, the long distance in running, and colon. References


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