The people at Eloxx Pharmaceuticals share a common goal — to bring safe and effective therapies to children and adults suffering from rare genetic diseases as quickly as possible.
People like Claire Wineland.
Claire was born with cystic fibrosis (CF), a progressive and eventually fatal genetic disease that causes a sticky buildup of mucus in internal organs. In the lungs, the mucus clogs the airways and traps bacteria leading to infections, extensive tissue damage and eventually, respiratory failure. In the pancreas, the mucus prevents the release of digestive enzymes that allow the body to break down food and absorb vital nutrients.
Claire was not expected to live past age 10.
Each day, the Santa Monica, California, native endures four hours of respiratory treatment. She also takes several dozen drugs to alleviate her symptoms and manage the other diseases brought on by CF, such as diabetes.
"It’s kind of like having five or six illnesses all wrapped into one nice little package and tied off with an oxygen tube," Claire jokes in one of her YouTube videos.
Weeks-long hospitalizations due to infections are common for Claire. During one trip to the hospital, doctors even put her into a medically induced coma to increase her likelihood for survival.
Thanks to her incredible zest for life and advancements in treatment of CF, Claire will celebrate her 21st birthday this month. She is now a successful author, entrepreneur and activist. Also, her Claire’s Place Foundation provides emotional and financial support to families living with CF.
The science
Worldwide, approximately 4 percent of all babies are born with a genetic disease or major birth defect. Of those, about 12 percent of all mutations reported are caused by an anomaly known as a nonsense mutation. These variations introduce premature stop codons in the reading frame of a gene, which can halt or stunt the production of a protein. Consequently, most nonsense mutations result in missing or nonfunctional proteins.
The premature stop codons that result from nonsense mutations have been identified in more than 1,800 rare and ultra-rare diseases. Although replacement therapy exists for a very small number of genetic diseases caused by nonsense mutations, scientists have not found effective treatments for the vast majority of these terrible diseases.
At least, not yet.
That’s where Eloxx comes in. The company’s lead compound, ELX-02, has the potential to be the first disease-modifying therapy for rare diseases that currently have no effective treatments. Nonclinical studies have demonstrated that ELX-02 is a potent read-through inducing drug in several models of genetic disease caused by nonsense mutations, including CF, cystinosis, mucopolysaccharidosis type I (MPS I), Rett syndrome and Duchenne muscular dystrophy.
Currently, the European Medicines Agency has designated ELX-02 as an orphan medicine — a drug developed specifically to treat a rare medical condition — for the treatment of MPS I. In the U.S., the Food & Drug Administration (FDA) has granted orphan drug designation to ELX-02 for the treatment of MPS I and Rett Syndrome.
Looking ahead in 2018, the folks at Eloxx will have their hands full. By the middle of the year, they expect to submit a clinical trial application (CTA) for cystic fibrosis to the Federal Agency for Medicines and Health Products (FAMHP) in Brussels, Belgium. Around the same time, they expect to submit an investigational new drug (IND) application for cystinosis to the FDA. By the end of the year, Eloxx expects to begin phase 2 studies in CF and cystinosis, subject to regulatory review and clearance of their CTA and IND.
The people
Eloxx’s technology comes from more than a decade of work pioneered by Dr. Timor Baasov. At the Technion Institute in Israel, he and his team developed new aminoglycoside variants that can fix damaged genes during the translation process. This is key in treating many genetic diseases caused by nonsense mutations.
"The interest in developing compounds that may improve the lives of people with rare diseases has enabled us to attract highly experienced people," said Eloxx Pharmaceuticals Chairman and CEO Robert Ward. "They bring with them a real sense of urgency in getting these potent...
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