2016: First curative gene therapy for ADA-SCID approved for infants

Nominated by: Federchimica Assobiotec

Organisation in nomination: GlaxoSmithKline (GSK), currently moved to Orchard Therapeutics, Telethon Foundation (Telethon), l’IRCCS San Raffaele Hospital (SRH) Italy and Molecular Medicine SpA now AGC Biologics, Italy


Adenosine deaminase severe combined immunodeficiency (ADA-SCID) is a rare, inherited, paediatric disorder that can be fatal if untreated.  Patients will usually be diagnosed by the age of 5 months, with a life expectancy of less than 2 years without early detection and effective treatment.  It occurs in between approx. one in 200,000 to one in 1,000,000 newborns globally.

2016 saw the first approval for a gene therapy that uses the patient’s own stem cells with the gene modified to correct the disease at its root. It allows children to acquire a functioning immune system and eliminate the genetic error with which they were born that causes adenosine-deaminase enzyme deficiency.

From 2000 to present – considering clinical trial participants, compassionate use access and post marketing authorization (AIC) access, 40 patients with gene therapy have been successfully treated with gene therapy for this rare and serious immune disease.

The EMA reviewed data both in patients treated and on the other therapies available for this pathology to consider balance between risk and benefits after 5 years.  In 2021, it expressed favourable opinion on the maintenance of this gene therapy on the market for the administration of the drug in patients with ADA-SCID without a compatible donor.


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