Page URL: https://www.bionews.org.uk/page_156444

Gene therapy treats rare immunodeficiency in children

17 May 2021
Appeared in BioNews 1095

An experimental gene therapy successfully treated 96 percent of children born with no immune system.

ADA-SCID (severe combined immunodeficiency due to adenosine deaminase (ADA) deficiency) is a rare disease that leaves children with no functional immune system. It is caused by the lack of a functional copy of the ADA gene

'If approved in the future, this treatment could be standard for ADA-SCID, and potentially many other genetic conditions', said co-lead author Dr Claire Booth, from Great Ormond Street Hospital for Children (GOSH) in London.

In three UK and US clinical trials, researchers at GOSH and the University of California, Los Angeles, collected haematopoietic (blood and immune cell-forming) stem cells from the patient's bone marrow or blood, and used a non-harmful virus to deliver a functional copy of the ADA gene into the cells' genome

These cells were then returned to the patients where they re-integrated into the bone marrow. ADA expression increased dramatically within three months and was sustained at healthy levels. Elevated immunoglobin production was also observed, indicative of a normal immune system, and severe infection rates were considered low after the initial three-month transition period.

After a follow-up period of two to three years, all the children had survived, and 48 out of 50 exhibited no signs of the disease and could discontinue previous treatments.

ADA-SCID affects up to one in 200,000 newborns worldwide and can often be fatal within the first two years of life. Treatment options are limited to a stem cell transplant (if a suitable donor is available) which is risky in itself, or life-long injections of the ADA enzyme and immunoglobin-replacement therapy to provide antibodies. Potential exposure to infections severely restricts human contact and social interaction.

'I wasn't allowed to kiss my daughter or sleep next to her. Everything had to be highly sterilised to keep her safe.' said the mother of a four-year-old who was part of the trial. 'Six months after she was given the gene therapy her skin was clean and healthy and the other symptoms got a lot better. She's doing so well now and can do everything a normal child her age would do.'

The study was published in The New England Journal of Medicine.

SOURCES & REFERENCES
Autologous Ex Vivo Lentiviral Gene Therapy for Adenosine Deaminase Deficiency
The New England Journal of Medicine |  11 May 2021
Experimental gene therapy points to cure for rare immune disease
New Atlas |  12 May 2021
Gene therapy offers a potential cure to children born without an immune system
Great Ormond Street Hospital |  11 May 2021
Gene therapy offers potential cure to children born without an immune system
University of California Los Angeles |  11 May 2021
Gene therapy restores immune function in children with rare immunodeficiency
National Institutes of Health |  11 May 2021
Gene therapy successfully treats rare immunodeficiency in paediatric patients
European Pharmaceutical Review |  12 May 2021
RELATED ARTICLES FROM THE BIONEWS ARCHIVE
19 July 2021 - by Francina Agosti 
An innovative gene therapy directed to the brain has improved the motor function and general wellbeing of children with a rare genetic disorder...
28 June 2021 - by Allison Watson 
Ring chromosome 20 syndrome is an ultra-rare difficult to treat epilepsy, often accompanied by intellectual disability and behaviour disorder...
7 June 2021 - by Martha Roberts 
People who have had type 2 diabetes for less than a decade and have a BMI of less than 23 could benefit from a bone marrow stem cell transplant...
22 March 2021 - by Beatrice Costa 
Healthy immune cells are still forming 18 years after blood stem cell transplantation in patients with faulty immune systems, research has found...
29 April 2019 - by Dr Helen Robertson 
Infants born with a severe immunodeficiency disorder have been successfully treated in a new gene therapy trial...
30 October 2017 - by Jen Willows 
NICE has approved a gene therapy for children with a rare disorder that leaves them with no functioning immune system...
27 July 2015 - by Daniel Malynn 
In Great Ormond Street, we meet three families all facing rare genetic immune diseases. The documentary witnesses the utter anguish the families go through and the heartbreaking decisions parents have to make...
HAVE YOUR SAY
to add a Comment.

By posting a comment you agree to abide by the BioNews terms and conditions


Syndicate this story - click here to enquire about using this story.