FDA Grants Orphan-Drug Designation for ELX-02 in Treatment of Cystinosis


The investigational drug programs represent a high unmet medical need as there are currently no approved therapeutics targeting the impairment caused by the mutations.


The US Food and Drug Administration (FDA) has granted Eloxx Pharmaceuticals’ ELX-02 orphan-drug designation for treatment of cystinosis.

ELX-02, a small molecule drug candidate designed to restore production of full-length proteins in patients with nonsense mutations, is in the early stages of clinical development for cystic fibrosis and cystinosis patients with diagnosed nonsense mutations on one or both alleles.

The investigational drug, which has not been approved by any global regulatory body, represents a high unmet medical need as there are currently no approved therapeutics targeting the impairment caused by the mutations.

Cystinosis is a rare disease that is typically diagnosed prior to age 2. The genetic metabolic disease causes cystine to accumulate in various organs of the body like kidneys, eyes, liver, muscles, pancreas, brain and white blood cells. Without specific treatment, children with cystinosis develop end stage kidney failure at approximately age 9.

“Given the clinical progress in 2017 for our lead product candidate, ELX-02, we are poised to seek regulatory clearance to initiate phase 2 clinical trials in cystic fibrosis and cystinosis this year in Belgium and the US, respectively,” Robert Ward, chairman, chief executive officer, Eloxx Pharmaceuticals, said in a statement.

As part of Eloxx’s clinical program, the phase 1 single ascending dose (“SAD”) study conducted at sites in Israel and Belgium have been completed, while the phase 1 multiple ascending dose (“MAD”) study in Belgium is currently ongoing.

The first phase 1 study SAD represents the first study in humans of ELX-02, was designed to evaluate the safety, tolerability and pharmacokinetics of the drug in healthy adult volunteers.

The phase 1 MAD study is expected to be completed in 2018 and the results will be included the planned Investigational New Drug Application (IND) and Clinical Trial Application (CTA).

Eloxx intends to submit an IND and CTA by mid-2018, and approval of the submissions will be required for initiation of phase 2 trials.

Currently, the European Medicines Agency has designated ELX-02 as an orphan medicine for the treatment of mucopolysaccharidosis type 1, and the FDA has granted orphan drug designation to ELX-02 for the treatment of mucopolysaccharidosis type 1 and Rett Syndrome.

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