Genom genterapi har en tysk pojke med EB fått 80 procent av huden transplanterad med hjälp av genterapi. Pojken har junktional epidermolysis bullosa och är sju år.
I det här unika fallet samarbetade tyska läkare med forskare i Italien. Forskarna odlade celler från pojken, där de med hjälp av genterapi förde in friska gener med stamceller, som kunde bilda nya friska hudceller.
Den genförändrade nya överhuden kunde läggas på 80 procent av pojkens kropp, främst ben, armar och rygg. Fyra månader efter operationen kunde pojken gå i skolan.
Lyssna även på Vetenskapsradions inslag där Gaston och Iwona medverkar.
Följande text kommer från
Debra Internationals hemsida:
An international team of researchers has broken new ground with a pioneering skin grafting procedure, reconstructing a fully functional outer skin – or epidermis – for a child suffering from a severe, and often fatal, form of Epidermolysis Bullosa (EB) – a genetic skin condition that causes constant pain due to unstoppable internal and external blistering.
Researcher Michele De Luca and colleagues reconstructed skin covering approximately 80% of the total body surface area for a seven-year-old child suffering from Junctional EB. Junctional EB is caused by mutations (or mistakes) in the genetic code that creates the protein laminin-332, which binds the layers of the skin together. This is the first time grafting such a large area of fully functioning skin on a person suffering from EB has been trialled.
Junctional EB has a severe negative impact on the quality of life. Forty percent of people suffering with Junctional EB die before adolescence. Those who survive develop chronic wounds, infections and tissue damage. People suffering from the condition also face an extremely high risk of developing an aggressive form of skin cancer.
During this experimental treatment, skin cells were taken from a non-blistering area on the patient’s body, genetically modified to contain the corrected form of LAMB3 – one of the genes responsible for the creation of the protein laminin-332. The corrected skin cells were then grown into grafts in the laboratory and transplanted back onto the patient in three separate procedures. Crucially, during the 21 month period following the study, the transplanted skin remained robust and did not suffer from blistering during this time.
Earlier research has shown that transplantation of gene corrected skin cells could create functional skin on a smaller scale. This new research confirms that the transplanted skin is being maintained by specific groups of epidermal stem cells, which are capable of renewing both in the laboratory and in the person’s skin without apparent deterioration.
Mike Jaega, President of DEBRA International, the umbrella organisation for a worldwide network of patient support and research funding groups working on behalf of those affected by EB, said:
‘This is without doubt an incredibly interesting trial and a positive step forward that has had remarkable results. There has been a huge amount of interest and great awareness of EB since this story broke into the public domain. As someone with EB, I think it should be noted that this was a trial with a Junctional EB patient and the young man had to have extensive operations and monitoring. The results of this trial are an enormous step for those suffering from Junctional EB, but that doesn’t automatically mean it will transfer to other types and subtypes of EB. We need to support the next step in this process to explore if or how this trial can help other types of EB. The fantastic thing is that all these trials are a step in the right direction; one monumental step in finding viable treatments for EB around the world.
It’s a hugely exciting time for research but we must keep our feet on the ground while we continue to reach for the stars. Gene and cell therapy trials, and even innovative ideas producing new dressings and appliances to help people with EB, are all important.
None of this research or wonderful trials to improve the lives of people living with EB could happen without your incredible support and donations. It’s a busy and exciting time in research which is why we need more help than ever!
Let’s keep fighting and please keep supporting us and your national DEBRA group because, together, we are all making a real difference. Thank you.'
This study was made possible by funding from a range of different sources, including DEBRA Austria.
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What does this all mean and what happens next?
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When is this available for me?
There are on-going clinical trials in a variety of research areas. This particular trial was in Germany, similar work is on-going in other countries. Clinical trials aim to make sure that a treatment is safe and works as planned in a suitable number of patients. Once this information can be confirmed, treatments are then made available.
Can it be used for other types of EB?
While this trial was for Junctional EB, we hope that learning experiences will enable the research teams to replicate across all types of EB. But, this can be a complicated process and needs more research to determine if and how this would translate to other types of EB.
Is all research now only going to focus on those with severe cases?
Research will continue to cover all types of EB for quality of life treatments and, ultimately, a range of cures.
Is this a cure?
This is not a cure, but is a great move forward for this child and his family, as well as advances the science and knowledge we have about treating EB.
What is DEBRA doing to help with this?
DEBRA continues to support pioneering research with recent funding provided for projects on itch, wound healing and drug therapies.
Is this guaranteed to work for everyone?
Unfortunately, there are never any guarantees; however, it is great to see this has worked in this case and hopefully may be replicated for others in the future.
What are the next steps?
Each of these trials creates learning opportunities and moves forward. We hope experiences learned from this trial, and other similar work, will enable further studies and research with a focus on skin grafting, cell treatments and the use of gene editing.
Can this be done again?
We hope so! DEBRA will continue to focus on innovative research and clinical trials to help EB sufferers, replicating successes whenever possible.
What does this mean?
Cells were taken from this young boy’s skin affected by EB, corrected in a lab environment; new skin was grown and replaced.
How much does this cost?
Clinical trials typically cost in excess of £1 million – this particular trial is estimated to cost several million Euros.
If this trial has been successful, why do we need to fund further trials before we can start putting this into practice?
Clinical trials test treatments and medicines to make sure they are safe to use and work as planned; trials would normally involve a suitable number of patients. A larger number of patients will need to be treated, and more assessments made, to ensure that this is the case.
Why does this trial differ from other skin grafting trials, and why has this one worked?
A number of centres around the world are using skin grafting techniques and, of course, this has been carried out in patients with burns for a good number of years. What differs in this case is that the cells that were taken were genetically corrected before the skin was grown and used for patient treatment.
Following the results of this trial, are there plans for Germany to make this treatment available? If so, when?
This was a collaborative piece of work involving researchers and doctors from across Europe. Clinical trials will need to be continued to ensure that this treatment, and others like it, are safe and work as intended.
If I want my child to be involved in a trial what is the application process and timescale?
To take part in any type of clinical trial, the first person to speak with is your own doctor. They can talk to you about the trials they may be taking part in and assess if you may be medically suitable. |
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