Focused on Genetic Disorders

Although replacement therapy exists for a very small number of genetic diseases caused by nonsense mutations, for most of these devastating diseases there are no effective treatments. This huge unmet medical need represents a significant opportunity for Eloxx.

Nonclinical studies demonstrated that ELX-02 is a potent read-through inducing drug (TRID) in several models of genetic disease caused by nonsense mutations. These models include Cystic Fibrosis (CF), Cystinosis, Mucoplysaccharidose type I (MPS I), Duchene Muscular Dystrophy (DMD) and Rett Syndrome.

Cystic Fibrosis

CF, the most common and lethal genetic disease among Caucasians, is a progressive disease that causes a thick buildup of mucus in the lungs, and damage to other organs. There are over 1,900 gene mutations associated with the disease, out of which around 10% are nonsense mutations. In the lungs, mucus clogs the airways and traps bacteria, leading to infections, extensive lung 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. Cystic Fibrosis occurs at a rate of 1 in 2,500–6,000 newborns.


Mucopolysaccharidosis type I (MPS-I) is a rare autosomal recessive disorder resulting from deficiency of the lysosomal enzyme α-L-iduronidase (IDUA gene), which is involved in the degradation of the glycosaminoglycans (GAGs), namely heparan sulfate and dermatan sulfate. Children suffering from the severe form of MPS-I, e.g. Hurler Syndrome, often die by about age 10, after suffering dwarfism, enlarged spleen and liver, and progressive deterioration of the body and mind. Death in children with Hurler’s syndrome often comes about because of heart complications, restricted airways, or respiratory infections. The disease affects 1 in 100,000 children in the US.


Cystinosis, a genetic disorder, is a lysosomal storage disease characterized by the abnormal accumulation of the amino acid cystine. Patients with Cystinosis suffer impaired kidney function, which leads to the loss of nutrients and thus impaired growth and, often, soft bones. Additional results of this disorder are corneal crystals (leading to blindness if left untreated), muscle deterioration, thyroid problems, inability to swallow, decreased hair and skin pigmentation, nervous system problems and diabetes. Cystinosis can manifest in infancy, teen years, or in adults, and is seen in about 1 in 100,000 to 200,000 people.

Rett Syndrome

Rett Syndrome is a neurodevelopmental disorder causing severe intellectual disability as well as problems with walking, epilepsy, abnormal breathing patterns, involuntary hand movements, and loss of the ability to speak. The primary cause of Rett Syndrome is de novo germline mutations in the Mecp2 gene. Rett syndrome is the second-most common cause for genetic mental retardation in females, with a rate of 1:10,000–15,000 live female births.

Duchenne Muscular Dystrophy

DMD results from mutations in the dystrophin gene. Patients usually suffer from progressive muscle atrophy and weakness with significant motor impairment. Most use a wheelchair by age 12, and eventually paralysis occurs. Cognitive impairment may occur. The life expectancy for patients with DMD averages 25 years. Since DMD is an X-linked disorder, it affects mainly boys, with an incidence of approximately 1 in 3,500.