NICE approves novel gene therapy for 'bubble baby syndrome'

NICE issues draft guidance on therapy for children with very rare condition ADA-SCID.

NICE issues draft guidance on therapy for children with very rare condition ADA-SCID

A treatment for a very rare inherited immune deficiency condition commonly called bubble baby syndrome has been approved by the National Institute for Health and Care Excellence (NICE) in draft guidance.

The draft guidance has been published for new gene therapy for severe combined immunodeficiency due to adenosine deaminase deficiency (ADA-SCID), an inherited genetic condition affecting about three babies a year in England.

The approval is the first time NICE has applied its new higher cost-effectiveness limits, placing more emphasis on lasting, positive outcomes versus the cost, when treating extremely rare conditions.

Compromised immune system

ADA-SCID affects white blood cells, leaving children without a properly functioning immune system and therefore vulnerable to life-threatening, recurrent infections.

Infants not receiving treatment must be kept in isolation – hence the term 'bubble baby' – and those who do not receive treatment die before school age.

Until now, the only available treatment was stem-cell transplant. However, closely matched stem-cell donors can be difficult to find, and transplants risk graft-versus-host disease and death.

Bone marrow modification

NICE's draft guidance recommends a therapy called Strimvelis when transplant is not available. The therapy requires the patient’s bone marrow cells to be removed and modified outside the body to produce a working ADA enzyme. The modified cells are then returned to the patient by intravenous infusion.

Patients would have to travel to Milan, Italy, for treatment costing €594,000 – about £530,000.

Enhanced quality of life

NICE director of the centre for health technology assessment Carole Longson said: ‘This means children born with ADA-SCID will now have a better chance of being able to lead as near normal a life as possible, free from the constant threat of getting a potentially life-threatening infection.’

Public consultation on the draft guidelines closes on 13 November.

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