Genethon is a non-profit organization committed to the design and development of gene therapies for rare diseases. This unique company is a pioneer in identifying genes relating to genetic diseases.

Genethon’s recent announcement on Business Wire noted the launch of a pivotal clinical trial to treat a rare liver disease called Crigler-Najjar syndrome. The European trial, held in Italy, The Netherlands, and France, enrolled six people ten years and older. This is the first such treatment developed for Crigler-Najjar syndrome.

The syndrome is characterized by high amounts of bilirubin (hyperbilirubinemia) which may cause neurological injury and death if it is not caught immediately. The most serious form of Crigler-Najjar may appear just after birth. Currently, patients must be treated with phototherapy for approximately twelve hours each day to prevent bilirubin from exceeding safe toxicity levels.

About the Trial

Patients in the initial group were treated with low-dose gene therapy. The second group received a higher dose and efficacy was eventually established. The higher dose resulted in bilirubin reduction and an opportunity to interrupt phototherapy treatment for over a year.

The disease is the result of a UGT1A1 enzyme deficiency. This enzyme transforms bilirubin so that it can be eliminated. The investigational drug GNT-003 combines typical copies of the UGT1A1 gene coding for bilirubin‘s metabolizing enzyme and AAV vector. AAV vectors are used most often as a gene delivery platform to treat many human diseases.

The results of the trial will be evaluated by the FDA. Decisions will be made with respect to the efficacy, safety, and approval of the drug.