Scientist save ‘butterfly’ boy with life-threatening disease by using experimental gene therapy  

During the pioneering surgery doctors took a sample of skin just four centimetres square from the child and corrected a disease-causing gene defect within its cells. The tissue was then grown into grafts that were used to replace 80 per cent of the boy’s skin over three operations

Scientist save ‘butterfly’ boy with life-threatening disease by using innovative gene therapy
Hassan who lives in Germany, has a genetic disease – junctional epidermolysis bullosa – that leaves his skin as fragile as a butterfly’s wings

In an induced coma after losing 80 per cent of his skin to a rare genetic condition, seven-year-old Hassan was close to death.

But now doctors have saved him after growing an almost completely new skin for him in the laboratory.

Hassan, whose family’s full name has not been released, suffered from ‘butterfly disease’, which makes human skin as delicate as the insect’s wings and likely to blister and peel off at the slightest touch.

He has been covered in blisters and wounds since he was a few days old and before the operation most of his body looked like an open wound.

Doctors grew a new skin in the laboratory using stem cells genetically altered to eliminate the flaw that causes the disease.

In what has been described as a major breakthrough in the use of stem cells to treat disease, this was then successfully transplanted on to Hassan’s body.

Now, 21 months later, having been admitted to a hospital burns unit close to death, he appears to be fully recovered.

His new skin has successfully ‘anchored’ to his body without the symptoms that have plagued him his whole life.

Born in Syria and now living in Germany, he is able to play football and other games with his friends.

Pictures have been released showing him ‘pinching’ his skin, which would have been impossible before without pulling it off his body.

His father said the transformation was ‘like a dream’, adding: ‘Hassan feels like a normal person now – he’s enjoying his life.’

The inherited disease junctional epidermolysis bullosa is the most severe form of a condition affects around one in 17,000 in the UK.

Around 40 per cent of children who suffer from it do not survive the first year of life, and most do not survive more than five years. Until now, the disease was considered incurable.

In two operations in November and December 2015, doctors at Bochum University Hospital in Germany used skin created in Italy by Dr Michele De Luca of the University of Modena.

Before the surgery, doctors took a small piece of skin of around half a square inch from an unaffected part of Hassan’s body and used gene ‘editing’ to correct it.

They then grew more than nine square feet of skin to transplant.

Details of the treatment, previously used only to reconstruct small areas of skin in two patients, appear in the latest issue of the journal Nature.

Scientist save ‘butterfly’ boy with life-threatening disease by using innovative gene therapy
Doctors handling the genetically engineered skin graft used to treat Hassan’s skin condition

Plastic surgeon Professor Tobias Hirsch, from Bochum Children’s Hospital, described Hassan’s critical condition when he was admitted to the burns unit: ‘He’d lost nearly two-thirds of his skin.

‘After two months we were absolutely sure we could do nothing for this kid and he would die.’

Now he has ‘good-quality’ skin that requires no treatment.

The doctors said treating Hassan provided useful research information about how skin is regenerated and maintained, providing a ‘blueprint’ that can be applied to other stem-cell therapies.

Skin specialists hailed the work but said it must be followed up to make sure that Hassan does not revert to his earlier state.

What is epidermolysis bullosa?

  • Epidermolysis bullosa (EB) is a general term used to describe a group of rare inherited skin disorders that cause the skin to become very fragile.
  • The skin is missing type VII collagen – a protein that usually binds the top layer of skin to the bottom layers.
  • Any trauma or friction to the skin can cause painful blisters.
  • In most cases, the symptoms of EB are obvious from birth.
  • It is caused by faulty genes inherited from one or both parents.
  • There are many cases when both parents are carriers of the faulty gene without realising it.
  • There is no cure for EB so the treatment aims at preventing blisters becoming infected.

Source: Daily Mail