Jack was given pioneering drink to beat muscle wasting disease and can still stand. His best friend Eli didn't get the drug and now he is permanently in a wheelchair. Their contrasting stories prove new treatment works, so why is NHS rollout at risk?

Since they were 3 years old, Eli Crossley and Jack Johnson person been nan closest of friends. 

But looking astatine them some together coming is bittersweet for Eli's mother Emily Reuben. 

The pair, now 16, person their adjacent enslaved for a tragic reason: they stock a devastating test which will yet declare their lives.

Duchenne muscular dystrophy (DMD) is simply a progressive muscle-wasting disease, nan astir communal and fatal familial information successful children which affects 200 babies calved successful nan UK each twelvemonth – almost each of them boys.

The mean life expectancy, arsenic nan information gradually robs them of their mobility and – yet – their bosom and lung function, is nether 30. 

For nan 2,500 families surviving pinch nan disease, location is nary cure.

But a caller supplier has raised caller hope. The treatment, givinostat, was approved past period by nan US regulator, nan Food and Drug Administration (FDA), and has been shown to hold nan complaint astatine which nan illness progresses.

And nary 1 knows this amended than Emily, a erstwhile journalist pinch CNN and Channel 4 News, who is co-founder of nan kindness Duchenne UK.

In 2020, erstwhile a proceedings of givinostat was recruiting children pinch Duchenne, Jack – nan boy of Emily's adjacent friend Alex Johnson, who founded nan kindness pinch her – was accepted to return part. 

But successful a sadistic twist fixed nan families' adjacent ties and nan boys' enduring friendship, Eli was not.

The quality betwixt them coming is nan cleanable illustration of really important this supplier could be. 

While Eli depends connected a wheelchair, pinch his arms importantly weakened, Jack – though he still uses a wheelchair – tin guidelines and has afloat usage of his arms.

'I'm delighted for Alex and Jack, but it's been reliable complete nan past fewer years watching Eli getting weaker overmuch faster than Jack,' Emily, 50, says. 

'I'm heartbroken Eli didn't get that aforesaid chance. Alex and I had ever been successful nan aforesaid vessel pinch nan boys. But Jack was capable to locomotion for 2 years longer than Eli, and nan quality betwixt them now is highly stark, moreover erstwhile they're sitting down.

'While givinostat doesn't reside nan guidelines origin of Duchenne, it slows down progression.

'I tin spot that for myself erstwhile I look astatine them both. Any genitor who knows conscionable really devastating this information is would return that successful a heartbeat.'

It is peculiarly frustrating for Emily, who lives successful Chiswick, West London, pinch her hubby Nick Crossley, 49, and 2 younger daughters Lauren, 14, and 11-year-old Marnie, because it is acknowledgment to nan activity of Duchenne UK that this state has go a starring centre for investigation into nan condition.

The kindness invested £4 cardinal to group up a web of objective proceedings sites, called nan DMD Hub.

'All of that activity – we changed nan scenery for DMD investigation successful nan UK – and Eli wasn't capable to beryllium progressive successful immoderate of nan trials,' says Emily. 'I took it rather severely erstwhile Eli wasn't accepted because I felt it was his past chance to get connected to a proceedings earlier his information deteriorated excessively far.

'But if we tin get this supplier approved successful nan UK, and nan regulators reflector what nan FDA did and make it disposable to everyone – sloppy of whether they tin still locomotion aliases not – he could still get it.

'Hopefully, for a caller generation, it could beryllium game-changing.'

Givinostat, known by nan marque sanction Duvyzat, is specified a measurement forwards because location is presently nary licensed medicine to dainty DMD successful nan UK.

The information is caused by a familial mutation which intends nan assemblage doesn't nutrient capable of a macromolecule called dystrophin, which maintains musculus strength. 

Without it, muscles gradually break down, starring to problems walking, sitting and speaking, and yet impact nan muscles astir nan lungs and heart.

By nan property of 11, astir will usually request a wheelchair.

While galore narcotics are being investigated for DMD – including cistron therapy and narcotics which target definite mutations – nan only medications utilized to dainty it successful nan UK are steroids specified arsenic prednisone aliases deflazacort.

They dampen down inflammation – a awesome problem successful Duchenne – which slows nan diminution successful musculus spot and mobility and tin hold bosom and lung complications.

But these tin origin superior broadside effects, from weight gain, stunted growth, delayed puberty and a simplification successful bony density, which tin summation nan consequence of fractures.

Last year, US aesculapian regulators approved a first-of-its-kind cistron therapy supplier which researchers believed could slow nan progression of Duchenne.

Called Elevidys, nan azygous dose needed costs £2.6 million, making it 1 of nan astir costly medicines successful nan world. However, hopes of it being offered connected nan NHS were dashed aft objective tests revealed it was not arsenic effective arsenic hoped.

In nan US, it is offered only to a mini number of children aged betwixt 4 and 5 who person not suffered important muscle-loss. So it is 'really critical' that different treatments are made available, says Emily.

Describing nan infinitesimal Eli was diagnosed, erstwhile he was three, she says: 'We came retired of that room conscionable clinging to each other.

It felt for illustration this chasm had opened up and our lives would ne'er beryllium nan aforesaid again.

'What defines you arsenic a genitor is nurturing your child, but each of a abrupt location was this emotion of full powerlessness. You can't spot beyond it. It's conscionable location connected your shoulder, this load of condolences and despair and agony. 

'You watch them summation each these abilities only to past watch them losing them again. All of a abrupt they're not walking. Then they can't prime up a solid and portion h2o by themselves. It's relentless.'

Givinostat useful otherwise to steroids. It blocks enzymes which tin impact really good musculus cells regenerate – boosting spot and reducing inflammation. 

It comes arsenic a liquid which is mixed pinch h2o and drunk pinch a meal.

In a trial, boys who had been treated pinch nan supplier for 72 weeks performed amended successful an appraisal known arsenic nan four-stair climb trial (where boys are asked to climb 4 stairs – a elemental trial of their mobility) than those who were fixed a placebo.

The supplier did not amended boys' symptoms and each of them sewage worse, but nan diminution was 'significantly smaller' successful nan group fixed givinostat.

Experts opportunity this intends that location is simply a bully chance children fixed nan supplier will clasp nan expertise to locomotion for longer – and, therefore, unrecorded independently for longer, too. 

It whitethorn besides widen their lives. The longer they stay capable to walk, nan healthier they will beryllium overall, experts say.

What is not yet clear is whether it tin besides hold nan degeneration of muscles astir nan bosom – which is what causes astir Duchenne deaths. 

But investigation truthful acold suggests that givinostat could slow this degeneration.

Eli was not admitted to nan proceedings because he was incapable to meet 1 of nan main criteria: being capable to guidelines up from nan level wrong 7 seconds.

But Emily says 1 of nan 'worst moments' was being connected a telephone pinch nan drug's manufacturer, Italfarmaco, which told them nan proceedings had been successful and they would beryllium applying for it to beryllium licensed.

'I burst into tears aft that telephone because I was truthful devastated that Eli hadn't had nan opportunity,' she says. 'Alex was truthful kind, and was crying, too. I emotion Jack truthful overmuch and person seen him turn up, but it's a weird affectional travel for us, and it is difficult to watch.'

Eli's diminution has meant giving up galore things he loved, Emily says, including playing football. 

He besides had to extremity being nan cox for a rowing squad erstwhile it became unsafe for him to get successful and retired of nan boat.

But he still has a play summons for Brentford FC and goes to each nan location games pinch his friends. 

He besides started learning nan ukulele, and moreover played astatine Glastonbury pinch his set Askew past year.

'He is remarkably resilient,' Emily says. 'He's incredibly funny and a kind, caring brother. And he and Jack get connected truthful well, contempt everything.'

The UK regulator, nan Medicines and Healthcare Products Regulatory Agency (MHRA), is expected to travel nan FDA's lead and o.k. givinostat. 

Italfarmaco confirmed it was 'in communication' pinch nan MHRA and had submitted abstracted paperwork to nan European Medicines Agency.

But nan hurdle is whether nan drug, erstwhile licensed, is deemed cost-effective by nan NHS's spending watchdog, nan National Institute for Health and Care Excellence (Nice).

Last week, different caller curen for DMD, vamorolone, was rejected by Nice because it was considered excessively expensive.

The drug, known by nan marque sanction Agamree, was approved by nan MHRA successful January and is simply a much effective replacement to accepted steroids. 

But Nice agreed that, while it was 'an effective treatment', location 'was not capable evidence' to reason it was 'cost effective'.

Experts fearfulness that a akin determination could hap pinch givinostat arsenic it is expected to costs nan NHS astir £200,000 a twelvemonth for each patient.

'I tin spot nan benefits of givinostat,' says Professor Dame Kay Davies, a geneticist astatine nan University of Oxford.

'But nan mobility is whether Nice will o.k. it connected those grounds. I'm acrophobic to opportunity it will travel down to whether they see it offers worth for money.'

Emily hopes nan MHRA will reflector nan FDA's decision, by granting nan licence for givinostat for everyone suffering pinch Duchenne's.

'The supplier is safe. There's nary logic nan system of action can't activity successful each boys and successful each muscles which are still functioning,' says Emily.

Italfarmaco said it hoped to bring givinostat to patients 'as soon arsenic possible'.

A MHRA spokeswoman said it could not comment.

For much accusation astir DMD, sojourn duchenneuk.org