View Full Version : Gene Therapy and Haemophilia

14th Dec 2017, 21:57
Every couple of months there is another article such as this. I am increasingly aware this and CRISPR are the cause of a revolution in medical treatment even greater than that of the discovery of antibiotics. I am not sure a doctor from today would recognise medicine in a generation.

Anyone remember the scene in the Star Trek movie?

‘Mind-blowing’ trial results give hope for haemophilia cure (https://www.thetimes.co.uk/article/mind-blowing-trial-results-give-hope-for-haemophilia-cure-kcq6h098s)

A “mind-blowing” clinical trial has moved scientists a step closer to curing haemophilia, a genetic bleeding disorder that means even small cuts can be fatal.

About 2,000 people in Britain are severely affected by the condition, which currently has no cure. However, a trial led by Barts Health NHS Trust has made a major breakthrough in treatment. Researchers injected 13 patients with a missing gene so that they were able to start producing the protein factor VIII that is needed for blood to clot. The trial moved all participants to a stage where they no longer needed regular treatment for the condition, while 11 of them have now got “normal or nearly normal” levels of the missing protein factor after being monitored for 19 months.

Jake Omer, 29, of Billericay in Essex, was diagnosed with haemophilia when he was two and has had frequent injections of factor VIII to prevent bleeding ever since. “The gene therapy has changed my life,” Mr Omer said. “I now have hope for my future. It is incredible to now hope that I can play with my kids, kick a ball around and climb trees well into my kids’ teenage years and beyond. It’s really strange to not have to worry about bleeding or swellings. The first time I noticed a difference was about four months after the treatment when I dropped a weight in the gym, bashing my elbow really badly. I started to panic thinking this is going to be really bad, but after icing it that night I woke up and it looked normal. That was the moment I saw proof and knew that the gene therapy had worked.”

The team will now hold further tests to include people in the rest of Europe, the US, Africa and South America.

“We have seen mind-blowing results which have far exceeded our expectations,” Professor John Pasi, director of the haemophilia centre at Barts Health NHS Trust, said. “When we started out we thought it would be a huge achievement to show a 5 per cent improvement, so to actually be seeing normal or near normal factor levels with dramatic reduction in bleeding is quite simply amazing. We really now have the potential to transform care for people with haemophilia using a single treatment for people who at the moment must inject themselves as often as every other day. It is so exciting.”


14th Dec 2017, 22:27
Its things like this that make you realise that if you are living in a first world country and have access to free or affordable healthcare, you've truly never had it so good.

I know a number of people in their 80s for whom a regular ritual is counting out all the different pills they have to take each day. Pills that keep illnesses under control that would have killed them twenty years ago.

It will be a brave person who tries to predict where medicine will be when the children of today reach their dotage.

What the long term effects of reverse Darwinism will be, are anybody's guess.

Mac the Knife
15th Dec 2017, 04:27
Also been done for Epidermolysis Bullosa Dystrophica (which I am very familiar with).

Absolutely stunning results.

We are in at the start of a real revolution. Wonderful.

That is why real science needs backing (which Trump is busy defunding)


15th Dec 2017, 18:12
What the long term effects of reverse Darwinism will be, are anybody's guess.

Nothing, because we'll be custom-designing our kids' DNA in twenty years. Or at least removing all the known, harmful genes.

The Nr Fairy
15th Dec 2017, 19:31
I'm waiting for one for Retinitis Pigmentosa. Not for me, but my son - whose gradual decline is heartbreaking, as a parent, to watch.

21st Jan 2018, 07:52
Drug that rewrites genes offers hope to children (https://www.thetimes.co.uk/article/drug-that-rewrites-genes-offers-hope-to-children-ht78vkxcb)

He has spent the whole of his young life close to death, but Henry Vinen and children like him, born with a rare and deadly immune deficiency disease, may soon have hope of a cure thanks to the first gene therapy available on the NHS. Next month, the UK’s National Institute for Health and Care Excellence (Nice) will tell hospitals that patients with conditions like Henry’s can have their faulty DNA rewritten.

It follows the cure of Margaux Moreels, a four-year-old Belgian girl born with a similar deadly genetic defect, who seemed doomed to the shortest of lives. “Just weeks after Margaux was born she contracted a lung infection and had to be ambulanced to hospital. It was terrifying,” her mother, Marijike, recalls. After her treatment with the gene- altering drug Strimvelis, however, she is living the life of a typical girl and is about to start school.

Margaux and Henry both have forms of severe combined immunodeficiency (SCID), a gene disorder that causes defective white blood cells. Such disorders are caused by single mutations in the DNA of one gene. Many people carry such genes, inherited from one parent, without knowing. This is because a normal gene, from the other parent, masks its failings. However, in some cases — as with Margaux and Henry — both parents have the same defective gene. If both are inherited, a child can suffer lifelong illness.

Margaux was offered a gene therapy being developed by Glaxo Smith Kline, the UK drugs giant, at the San Raffaele Telethon Institute for Gene Therapy, in Milan.....

In Margaux’s treatment, stem cells taken from her bone marrow were treated with Strimvelis, which contains a virus genetically modified with a working version of Margaux’s defective gene. When the virus infected her extracted stem cells, it inserted a copy of the working gene into her DNA, enabling the stem cells to make functioning white blood cells. The genetically modified stem cells were then put back into her bone marrow. Margaux has now developed a healthy immune system and is a bubbly child who needs no medication. “We took Margaux to the seaside for the first time,” Marijike said......

Glaxo Smith Kline said: “We hope to apply this technology across other diseases, enabling many more patients to benefit from this innovative treatment approach.” Susan Walsh, director of Primary Immunodeficiency Disorders UK, a patients’ association with 1,200 members, said Nice’s decision to approve Strimvelis was “extremely positive”, adding: “This opens the way for treating many other rare genetic conditions that blight the lives of thousands of people.”

11th Mar 2018, 08:51
Considering this was only a safety, not a therapeutic, trial; and that the patients selected were therefore a5 the point of death; the rates of remission and survival are staggering. In a therapeutic trial, administered to those earlier in their treatment, a total remission rate of over 20% would be seen as a major success.

Leukaemia patients near death ‘saved’ by edited genes (https://www.thetimes.co.uk/article/leukaemia-patients-near-death-saved-by-edited-genes-b03np3bwb)

Two children and two adults on the brink of death from late-stage leukaemia are in remission after infusions with genetically engineered immune cells in medical trials in London. The “universal immune cells” had had their DNA edited so they could recognise leukaemia cells and destroy them, a task that natural cells do badly.

Professor Waseem Qasim, an immunologist at Great Ormond Street Hospital, who designed the artificial immune cells, said: “In theory, these artificial immune cells could be mass produced ready to treat patients when they are diagnosed with leukaemia.”

The trials followed the 2015 case of Layla Richards, then aged one, who was dying of acute lymphoblastic leukaemia when she was given a prototype of the then untested treatment at the hospital. She has been in remission ever since.....

The results, discussed at a conference on gene editing at the Royal Society last week, have emerged from two separate trials. One was on children aged up to 16, at Great Ormond Street, and the other on adults. Only a few patients were involved because the aim was to assess how safe the artificial cells might be. Any mainstream treatment remains some way off.

“Of the five patients in the children’s trial, all went into remission,” said Qasim. “One has since died from other complications while two more had their leukaemia come back and also died, but two have gone six months without disease.” Professor Paul Veys, director of the Great Ormond Street bone marrow transplant unit, who works with Qasim, said: “As they were all close to death this is a very encouraging result.”

The second trial, on adults, is at King’s College Hospital, in south London, with seven patients treated so far — all of them “on the brink of death”, said Dr Reuben Benjamin, a consultant haematologist. Of the five that went into remission, two remain clear, a third has relapsed and the remaining two have died of separate infections.

“This is a safety trial — not a therapeutic one, so we are very encouraged to get these results so early on,” said Benjamin. “The same approach could be applicable in other blood and bone cancers such as acute myeloid leukaemia, and myeloma while, in America, a related therapy licensed for treating certain types of leukaemia is coming to the market.”

The new treatment starts by extracting immune cells from the blood of a healthy donor. Such “T-cells” normally roam the body, hunting and destroying viruses or defective cells that might trigger disease. The T-cells are then treated with molecules that splice a new gene into their DNA — reprogramming them to hunt leukaemia cells instead — and infused into a patient’s blood. A second genetic modification protects the T-cell from being targeted by medications.

“Leukaemia in adults is a really nasty disease, with about a 40% survival rate,” said Benjamin. “This treatment is a potential game changer. In the space of a few years gene editing has given us a possible treatment for all these diseases. We need to be cautious but also hopeful.”....

11th Mar 2018, 09:25
What the long term effects of reverse Darwinism will be, are anybody's guess.

An over-populated world containing an ever-increasing proportion of people with rarer and rarer diseases requiring ever greater resources to ameliorate them.

11th Mar 2018, 10:02
I have a much younger family member with SLE lupus currently on circa 45 tablets per day, and the prognosis is not good.

Every few years we hear of advances but we just never seem to be able to improve the quality of life for people with this condition.

Perhaps some form of gene therapy could be the way forward?


11th Mar 2018, 10:30
One of my wife's friends is a medical researcher at university. At a gathering years ago, she was telling us that outside of the slow (but sure we were told) process of decoding DNA and identifying the structural defects (or errors as she called them) involved in specific diseases, the biggest challenge at that time was inserting enough of the corrected DNA (or maybe RNA?) bits into targeted cells. That challenge appears to have been met.

A quick look at Science Daily reveals at least a dozen diseases and conditions, all serious, that appear to be within reach of a cure or at least treatment as a chronic condition, through genetic therapies, just in the past two months. Well done, medical science.

11th Mar 2018, 10:40
Every few years we hear of advances but we just never seem to be able to improve the quality of life for people with this condition.

One of my best friends has this. Her prognosis was 5 years to live. That was 30 years ago. I suspect there has been improvement in the knowledge and treatment, but it has been very, very slow.