At the end of the day, if there were a drug that stopped FSHD in its tracks, would you want it, even if it did not restore what you have already lost? What if a drug made you stronger temporarily, even if it did not stop the disease? Only those who are directly affected by… Read More »
The Future is Now for the Voice of the Patient
The Future is Now for Natural History Studies
Here’s what keeps us up at night: researchers will find a drug that actually works, and yet without understanding the natural history of the disease, they can’t prove the drug is what made the difference. Therefore, the drug efficacy is difficult to prove to the FDA. The very first question a drug company asks when… Read More »
$447,620 in funding for four new projects
The FSHD Society board of directors approved $447,620 in funding for four projects submitted in the February 2019 cycle. These grants will move forward four distinct strategies that show promise. Identification and testing of DUX4 inhibitory compounds. Angela Lek, PhD, Yale University, Hartford, Connecticut, USA, and Louis Kunkel, PhD, Boston Children’s Hospital, Massachusetts, USA. $110,000… Read More »
The Future is Now for Clinical Trials
Our community has been promised for decades that “one day in the future” there will be treatments for FSHD, and so it’s amazing to realize that day is almost upon us. The future is NOW for clinical trials. In 2019, we saw two Phase 2 trials—for Acceleron’s ACE-083 and Fulcrum’s ReDUX4 (losmapimod). A dozen biopharma… Read More »
A new, improved CRISPR-Cas9 technology
By Angela Lek, PhD Yale University The discovery of CRISPR-Cas9 gene-editing technology has undoubtedly revolutionized the field of human genetics, enabling for the first time in human history the ability to target disease-causing mutations in our DNA–the root cause of genetic diseases. Now a new, improved version of CRISPR-Cas9 has been developed… Read More »