People living with cystic fibrosis (CF) received encouraging news in late 2019: A new Trikafta treatment combining three drugs – elexacaftor, tezacaftor, and ivacaftor –reduces symptoms for this ultimately deadly disease that affects some 90,000 people worldwide.
The new medication, although not a cure, works wonders for the 80 percent of cystic fibrosis patients with the predominant mutation causing the disease, called F508del.
But what about the 20% of CF patients who have a different genetic mutation? Those 18,000 or so people are the target of a new approach from Jerusalem-based biotech company SpliSense.
The company’s technology is based on a term familiar to most people these days due to the Covid-19 crisis: mRNA.
SpliSense manipulates and “fixes” defective messenger RNA that generates a non-functioning cystic fibrosis transmembrane conductance regulator (CFTR) protein.
Rather than trying to repair defective proteins, SpliSense’s technology “generates a new fully functioning protein from RNA,” the company’s CEO, Gili Hart, tells ISRAEL21c.
And while SpliSense’s mRNA technology is intended to address “orphan” conditions that have too few patients to warrant big pharma budgets, it can also benefit the other 80% of CF patients, Hart emphasizes.
There are approximately 2,000 variants of the CFTR gene, although only 300 cause disease. SpliSense has demonstrated in cells derived from patients that it can completely restore CFTR function.
The company is now moving on to animal models and the first human clinical trials are planned for 2022. SpliSense raised a $28.5 million Series B round in May to move the company toward trials and the development of treatments for other pulmonary ailments.