Eloxx Pharmaceuticals: Promising Treatment for Rare Genetic Diseases

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 potential treatments to patients as quickly as possible."

The company is growing fast, Ward added. "To meet the demand of delivering such promising treatments, we’re looking for individuals with experience in rare diseases and who share our passion for improving the lives of patients who suffer from them."

In 2017, Eloxx increased its staff to 18 full-time employees — a 50 percent increase over the previous year. What’s more impressive is that the company currently has 24 openings on its careers page.

"We share a culture of integrity and respect," Ward said. "If you have a passion for rare diseases and would like to be part of a rapidly growing entrepreneurial culture which promotes diversity, operates through strong teamwork and rewards accountability, we could use you at Eloxx."

Led by a management team experienced in the development of rare disease therapeutics, Eloxx is headquartered in the Boston suburb of Waltham, MA, with R&D operations in Rehovot, Israel.

The financial outlook

Eloxx became a publicly traded company with their acquisition of Sevion Therapeutics in late 2017. During their first webcast and conference call since this milestone, the company communicated that it is well-positioned economically. According to CFO Greg Weaver, the company had cash and cash equivalents of $24 million at the end of 2017. In Q4 2017 alone, the company received net proceeds of $16.8 million as part of completing its Series C financing effort.

"Based on our current operating plans, we expect our current assets to fund the company at least through the end of the first quarter of 2019," Weaver said. As for staffing, the company expects to increase their headcount throughout the year as they expand their overall development activities and increase spending on clinical trials.

Due to a substantial expansion in its clinical development activities, the company’s R&D expenses for 2017 totaled $16.4 million, compared to $9 million the previous year. General and administrative costs are also indicative of the company’s rapid growth.

"We spent $4 million in 2017 compared to $0.8 million the year before," Weaver reported. "The increase was primarily related to an expansion of our staff, stock-based compensation, other personnel costs and costs related to opening our U.S. headquarters in Boston."

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