Meet Nina

One of the main areas of research within the Zayed Centre for Research is the development of new gene therapy approaches to offer transformative and curative therapies for a wide range of genetic diseases. Gene therapy involves inserting a working copy of a faulty gene into a patient's own cells so that they start to work correctly. Since 2001, more than 100 children have been treated with gene therapy for dozens of different diseases at GOSH including Nina. Her dad Graeme shares their story: Graeme and Aga were distraught when doctors told them their newborn baby Nina could die within weeks. And when they were told that Nina’s only hope was a risky bone marrow transplant, they refused to accept what they were told.

Instead, the couple set out to learn everything they could about the rare genetic condition – one that left their daughter without an immune system. After studying medical journals, they tracked down a cutting-edge gene therapy treatment at GOSH.

This was in early 2013 and the couple were living in Poland, where Nina was diagnosed with the condition ADA-SCID. Nina’s disorder, which left her defenceless against even the most minor coughs and colds, was caused by a faulty gene in her adenosine deaminase (ADA) enzyme. The enzyme removes a toxic molecule from white blood cells. Without it the toxins were building up, killing the cells that fight infection.

Meeting Professor Bobby Gaspar

Fortunately for Nina, her parents discovered the cutting edge gene therapy work of Professor Bobby Gaspar, an expert in immunology. His team pioneered a procedure to harvest cells from bone marrow. In the laboratory these cells are given a working version of the ADA gene before being injected back into the patient.

“We had an option at this point. We were told there were two ways of curing Nina. Either a transplant from a non-related donor, which is risky, or gene therapy, which is less proven. However, if she had had a transplant there was a risk of death, while with gene therapy there wasn’t. We knew which we were going to choose,” said Aga.

Professor Gaspar said: “This research came about because we saw how severely limited the treatment options were for this condition. When I first became a junior doctor, we could only do bone marrow transplants, which meant up to half the patients were dying or had severe problems. I knew there must be a better way.”

Pioneering Treatment

Following her parents’ decision, Nina became part of Professor Gaspar’s trial as the first girl (and only the fourth patient) to undergo the treatment when her parents relocated back to Britain to come to GOSH.

For Nina’s father, Graeme, two major factors helped with the decision to come to GOSH to join the clinical study led by Professor Gaspar. “Firstly, the stem cell treatment was far kinder to children, with a lot less suffering from the chemotherapy associated with bone marrow transplant. And secondly, we knew with gene therapy that even if we lost Nina in the process, we would have done something that helps research and other families. There would be something positive that came out of it.”

Before the treatment could begin Nina needed three months in GOSH to get well. Doctors then extracted stem cells from Nina’s bone marrow and used a specially adapted, harmless virus to fix her faulty DNA in the lab. The corrected stem cells were then put back into Nina’s body so she could grow a working immune system to protect her.

Nina went home after six weeks but lived for several months in a specially sterilised room while her immune system developed. Thanks to the pioneering treatment, she now lives a normal life. She’s full of energy and the results should last for life.

Learn more about the Zayed Centre for Research into Rare Disease in Children