What is nucleoside bypass therapy and could the treatment have helped Charlie Gard’s mitochondrial depletion syndrome?
Charlie's parents wanted to take the 11-month-old baby to the US against the wishes of doctors in a bid to save his life
THE world was touched by the case of Charlie Gard as his parents fought a relentless battle for permission to take him to the US for medical treatment.
Doctors said his condition was incurable and his life support machine should have been switched off but there was a debate in the medical, legal and political worlds about how 11-month-old Charlie should be treated...
What is mitochondrial DNA depletion syndrome?
Mitochondrial DNA depletion syndrome refers to a group of disorders that cause affected tissues to suffer from a significant drop in mitochondrial DNA.
These supply energy to the cells in the human body and when they fail the body's organs are damaged and shut down.
In Charlie's case energy was not getting to his muscles, kidneys and brain.
The 11-month-old inherited the rare RRM2B gene from his parents - who were unknowing carriers.
The vast majority of children with Mitochondrial DNA depletion syndrome do not survive.
Where it doesn't kill it causes permanent brain damage.
There is currently no cure but some treatments have shown a reduction in symptoms. Families of other children who've had the disease had differing views on the best course of action for Charlie.
What is nucleoside bypass therapy?
Charlie's parents were fighting for him to be taken to the US after a doctor in the States offered them nucleoside bypass therapy.
In theory it could have seen Charlie’s mitochondrial DNA synthesise again by giving him the naturally occurring compounds his body isn’t able to produce.
It is an experimental new treatment taken as an oral medication.
The drug has not even been tested on mice for Mitochondrial DNA depletion syndrome.
However, doctors say it has been tested on mice and patients with a different mitchondrial condition and has brought about “dramatic clinical improvements”.
The family said they had seven specialist doctors - including one from England - supporting their calls for Charlie to be given the treatment.
A US expert said 18 people have been treated with nucleoside bypass therapy. But he added that none of them were in a condition as severe as Charlie’s.
Which hospitals offered to treat Charlie?
New-York Presbyterian Hospital and Columbia University Irving Medical Center had said in a statement they would admit and assess Charlie for treatment.
Dr Michio Hirano is developing an experimental therapy used on at least one American patient with a less severe form of the disease.
The hospital said it would admit Charlie "provided that arrangements are made to safely transfer [Charlie] to our facility, legal hurdles are cleared, and we receive emergency approval from the US Food and Drug Administration (FDA) for an experimental treatment as appropriate."
Bambino Gesu hospital in Rome, Italy, also offered to take terminally-ill Charlie and had asked Great Ormond Street Hospital if he could be transferred.
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Have other children been treated using nucleoside medication?
Art Estopinan's son, Art Jr, suffers another form of mitochondrial depletion called TK2 - a "cousin" disease to Charlie's.
Five years ago, Art Jr appeared to be facing death when he became the first human to be given nucleoside medication.
Art said his son was given a "new lease of life" by the drug and can now stand with the help of a brace and say a small number of words.
He told Sun Online: "We were elated. It was like God had answered our prayers.
"We were so happy that at least our son had hope, some medication that might stop him dying.
"Without the medication he would not be alive today, doctors said it and we have witnessed it.
"Before he would sleep all day. But we started to see a lot more energy.
"Parents are the number one doctors, we know our son, and we knew he was getting stronger."