Great Ormond Street Hospital (GOSH) International and Private Care can offer gene therapy for children with AADC deficiency. GOSH is one of only a few facilities in the world offering this effective treatment for this debilitating and life-limiting condition.
Eladocagene exuparvovec
This gene therapy is used for the treatment of patients aged 18 months and older, with a deficiency of the protein called aromatic L-amino acid decarboxylase (AADC). The protein is essential to make certain chemicals that the body’s nervous system needs to work properly. The treatment has been shown to be effective in many patients.
AADC deficiency is an inherited condition caused by a variation (change) in the gene that controls the production of AADC (also called dopa decarboxylase or DDC gene). The condition prevents development of the child’s nervous system, which means that many of the body’s functions do not develop correctly during childhood, including movement, eating, breathing, speech, and mental ability. Most children with onset of disease in infancy do not achieve head control.
The condition is rare but often fatal, affecting every aspect of young life
– physical, mental and behavioural development. Children with AADC deficiency have painful episodes where their bodies contort and stiffen, their eyes roll out of their control, they experience digestive issues, low blood sugar levels, behavioural problems, and poor sleep. Unfortunately, children with AADC deficiency rarely reach adulthood as they are prone to respiratory infections and can even stop breathing during their episodes.
A healthy version of the gene that causes AADC deficiency
Eladocagene exuparvovec is a recombinant adenoassociated virus serotype 2 (AAV2)based gene therapy, containing the human DDC gene that, once delivered to the brain, is designed to overcome the underlying genetic variation that causes a lack of the AADC protein. When a functioning DDC gene is delivered to a part of the brain involved in this condition (the putamen), AADC can be produced, leading to the production of the much-needed chemical in the brain, dopamine. The gene therapy is delivered directly to the brain with millimetre accuracy using robotic-guided surgery, guided by a highly skilled multidisciplinary surgical team using state-of-the art positioning systems.
This gene therapy treatment is undertaken by a multidisciplinary GOSH team including Professor Manju Kurian, Consultant Paediatric Neurologist, Mr Kristian Aquilina, Consultant Neurosurgeon, Dr Lucinda Carr, Consultant Paediatric Neurologist and Dr Ravi Shihurkar, GOSH Consultant Anaesthetist.
Gunreet’s story
Gunreet was just nine months old when she was diagnosed with AADC deficiency. Mum Sandeep, said: “When Gunreet was about seven months old, I noticed she wasn’t reaching her milestones at the same age that her older brother did. She couldn’t hold her own head up or reach out for items. She cried a lot and always wanted to be held.”
After Gunreet arrived at GOSH she underwent genetic testing and was diagnosed with AADC deficiency.
In February 2024, she underwent the specialist surgery to have the new gene therapy: “Since having the gene therapy, Gunreet has made great progress. She cries less, smiles more, and can reach for objects. She can hold her head up and is trying to sit up, she’s recently learnt how to roll from her stomach to her back which is fantastic to see.”
Gunreet’s learning development will be monitored and the family hopes she will be able to start at a school with specialist support for her in January next year thanks to the progress she has been making.
Effectiveness
European Medicines Agency (EMA): the benefits of this novel treatment were shown in three main studies involving 28 children aged 1.5 to 8.5 years with severe AADC deficiency confirmed by a genetic test. The main measures of effectiveness were head control and the ability to sit unassisted. The studies showed that around 70% of patients (14 out of 20) were able to control head movement and around 65% of patients (12 out of 20) could sit unassisted two years after treatment. Data from scientific literature showed that patients with severe AADC deficiency who have not received any treatment could not achieve these developmental milestones. Several patients have been treated at GOSH under this new programme, all responded well to the gene therapy.
AADC deficiency is a rare condition, but often a cruel one. We know children with the
condition have painful episodes that can last for hours and, as their condition progresses, their life becomes more and more limited. It’s incredible to me that I can now prescribe novel gene therapies under similar processes to paracetamol and antibiotics.
We work collaboratively across teams inside and outside the hospital, from physios and surgeons to dietitians and speech therapists, alongside partnerships with companies who supply these therapies.
– Professor Manju Kurian
Why choose GOSH
Great Ormond Street Hospital (GOSH) in the heart of London is a globally renowned specialist children’s hospital and the leading paediatric hospital in Europe, championing innovation and providing ground-breaking treatments for the rarest and most complex conditions across 67 specialties and sub-specialties. We have 300,000 young visitors every year, and International and Private Care treats more than 6,000 patients from around the world annually. The service is tailored to the treatment of international patients, and
our dedicated international team ensure excellent patient and family experience
from referral to discharge.
to everything we do. We are committed to achieving the best possible results by consistently measuring the outcomes and value against the highest international
standards.
GOSH’s Multi-Disciplinary Team (MDT) approach allows children with rare and complex diseases to receive the best possible care. MDTs lead to better clinical decision making
and improved overall quality of treatment. This approach allows children to receive the best possible care from world leading clinicians, all under one roof.
GOSH has the largest paediatric neurosurgery unit in the UK. The highly skilled and experienced team offers specialized care for conditions like hydrocephalus, brain and spinal tumours, and epilepsy. It performs around 1,000 procedures annually.
GOSH treats the majority of children diagnosed with AADC Deficiency in the United Kingdom and is the only delivery site for this potentially lifesaving and life-changing gene therapy.
Contact us:
For more information about Great Ormond Street Hospital and how we can assist you, please contact our Gulf Office:
- Email: GulfOffice@gosh.nhs.uk • Phone: +971 4 3624722
- Website: www.gosh.ae
