4th September 2016
A promising new treatment for Alzheimer's
A new antibody has been shown to substantially reduce the harmful beta-amyloid plaques in patients with early-stage Alzheimer's. Its makers have described it as "the best news for dementia in 25 years."
Left: Harmful amyloid-beta plaques (shown in red). Right: At the highest dosage of treatment, the plaques have been largely cleared from the brain.
Credit: Ayres, Michael/Sevigny et al/Nature
Aducanumab, a new antibody developed by the University of Zurich (UZH), has been shown to trigger a meaningful reduction of harmful beta-amyloid plaques in patients with early-stage Alzheimer's disease. These protein deposits in the brain are a classic sign of Alzheimer's disease and contribute to the progressive degeneration of brain cells. Furthermore, the researchers demonstrated in an early stage clinical study that – after one year of treatment with Aducanumab – cognitive decline could be significantly slowed in antibody-treated patients, as opposed to the placebo group.
Although the precise causes of Alzheimer's remain unknown, it is clear that the disease commences with progressive amyloid deposition in the brain approximately 10 to 15 years before the clinical symptoms such as memory loss. Researchers have now been able to show that Aducanumab, a human monoclonal antibody, selectively binds amyloid plaques, thus enabling microglial cells to remove them. A one-year trial, as part of a phase Ib study, resulted in almost complete clearance of the harmful plaques in treated patients. The results, which also involved biotech company Biogen and the UZH spin-off Neurimmune, were published this week in the journal Nature.
"This is the best news that we have had in our 25 years," said Dr Alfred Sandrock from Biogen, which is based in Massachusetts. "It brings new hope to patients with this disease."
"The results of this clinical study make us optimistic that we can potentially make a great step forward in treating Alzheimer's disease," said Prof. Roger M. Nitsch from the Institute for Regenerative Medicine at the UZH. "The effect of the antibody is very impressive. And the outcome is dependent on the dosage and length of treatment." As shown in the image above, practically no beta-amyloid plaques could be detected in patients who received the highest dose of the antibody.
The drug was developed using a technology platform from Neurimmune. Using blood collected from elderly persons aged up to 100, and demonstrating no cognitive impairment, researchers isolated the immune cells whose antibodies are able to identify toxic beta-amyloid plaques, but not the amyloid precursor that is present throughout the human body and believed to play an important role in the growth of nerve cells. These immune cells were then cloned in large numbers and given intravenously to each patient just once a month. The good safety profile of the drug may well be attributed to its specific capacity to bond with the abnormally folded beta-amyloid protein fragment, as well as the fact that the antibody is of human origin.
165 patients with early-stage Alzheimer's were treated in the phase 1b clinical study. To further evaluate the safety and efficacy, two larger phase 3 clinical trials are now underway involving 2,700 patients from 20 countries in North America, Europe and Asia. The U.S. Food and Drug Administration has placed the drug on "Fast Track" designation, a program that supports the accelerated development of new treatments for serious conditions with an unmet medical need.
"By collaborating with regulators through programs like Fast Track, we hope to bring effective treatments to patients and families affected by Alzheimer's disease as quickly as possible," said Dr. Sandrock.
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3rd September 2016
DNA is sequenced in outer space for the first time
DNA has been sequenced in space for the first time, with astronaut Kate Rubins using a MinION device aboard the International Space Station.
High above the Earth, at an altitude of 330 km (205 mi), NASA has conducted the first ever space-based genome sequencing. This was made possible by a handheld device called a MinION, used aboard the International Space Station (ISS) by astronaut Kate Rubins.
Genetics have come a long way since 1953, when James Watson and Francis Crick published their famous discovery, which identified the double helical structure of DNA, the molecular instructions used in the development and functioning of all known living organisms. By the 1970s, gene expression could be controlled and manipulated through genetic engineering, which led to the first genetically modified animals and plants. During the final decades of the 20th century, teams of biologists attempted large-scale genetics projects, sequencing entire genomes, which culminated in the Human Genome Project. The latter was a $2.7 billion endeavour that involved hundreds of scientists from laboratories around the world.
Today, in the 21st century, the costs of sequencing DNA and the time required to do so have fallen at unprecedented rates – thanks to exponential advances in technology progressing faster than Moore's Law. Hundreds of thousands of human genomes have now been sequenced, with a billion likely to be read by 2025, alongside those of many more animals, plants and other lifeforms. Given the increasing portability of the hardware and its relative ease of use, it was only a matter of time before this technology found its way into space. This follows a similar milestone in November 2014 when the first 3D printer was used on the ISS.
The MinION device used by Rubins is small and light enough to carry in your palm and is easily attached to a laptop with a USB port. It was tested by researchers last year who sequenced the full genome of the bacteria Escherichia Coli. Developed by UK-based company Oxford Nanopore Technologies, the MinION works by a system of tiny protein "nanopores" dotted across an electrically-resistant membrane. A current is applied and flows through the aperture of the nanopore only. Individual molecules are identified based on a distinctive signature they reveal as they pass by and disrupt the current. Intact strands of DNA can be processed in real time and catalogued according to each of the four nucleobases – guanine (G), adenine (A), thymine (T), and cytosine (C) – as explained in this video.
Credit: Oxford Nanopore Technologies Limited
Dr. Rubins, who has been aboard the ISS since 6th July, sequenced the DNA of bacteria, viruses and rodents. A team back on the ground then analysed the data and compared it to identical samples processed in their laboratory. The microgravity environment and other conditions on the space station appeared to have little or no effect in terms of harming the results.
"Until recently, technology for sequencing in space hasn't been available because sequencers are generally large bulky instruments," said Charles Chiu, director of the Abbott Viral Diagnostics and Discovery Centre at the University of California, who led the study. "It didn't turn out to be a huge problem. We essentially got equivalent data, and it's of very high quality, probably within the top 20% of nanopore runs that we do routinely here on Earth."
In future missions, the sequencing of DNA could enable crew members to rapidly diagnose an illness, or identify microbes growing aboard the station and what health threat is present. This would be particularly important to help protect astronauts on long-duration missions to Mars, for example.
"Onboard sequencing makes it possible for the crew to know what is in their environment at any time," said Sarah Castro-Wallace, NASA microbiologist and ISS project manager. "That allows us on the ground to take appropriate action – do we need to clean this up right away, or will taking antibiotics help or not? We can resupply the station with disinfectants and antibiotics now; but once crews move beyond the station's low Earth orbit, we need to know when to save those precious resources and when to use them."
In addition, the MinION and other sequencers can become a tool for more advanced science investigations in space. Researchers could use them to examine changes in genetic material or gene expression while in orbit, for example, rather than waiting for samples to be returned to Earth for testing. The ability to read genomes in space may also help in the detection of DNA-based life elsewhere in the universe. Maybe in the far future, similar devices will be routinely used on Earth-like planetary surfaces to catalogue alien species.
"Welcome to systems biology in space," said Rubins after sequencing the DNA samples, thanking the ground team for their efforts. "It is very exciting to be with you guys together at the dawn of genomics biology and systems biology in space."
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12th August 2016
New record for longest-lived vertebrate
New research has found that the Greenland shark (Somniosus microcephalus) is the longest-lived vertebrate ever known, able to reach a lifespan of nearly 400 years.
Credit: Julius Nielsen
Greenland sharks can live as long as 400 years, and reach sexual maturity at the age of about 150, according to a new study published today in the peer-reviewed journal Science. This makes these animals the longest-lived vertebrates on Earth.
The Greenland shark (Somniosus microcephalus) is widely distributed across the North Atlantic, with adults reaching lengths of four to five metres (13 to 16 feet). The biology of the Greenland shark is poorly understood, yet their extremely slow growth rates, at about 1 cm per year, hint that these fish benefit from exceptional longevity.
Traditional methods for determining the age of a species involve analysing calcified tissue, a feature that is sparse in Greenland sharks. To determine the average age of this species, Julius Nielsen et al. therefore applied radiocarbon dating techniques to the eye lenses of 28 females, caught as by-catch. Their analysis suggests an average lifespan of at least 272 years. The two largest sharks in this study, at 493 cm and 502 cm in length, were estimated to be 335 and 392 years old, respectively.
Furthermore, since previous reports suggest that females of this species reach sexual maturity at lengths greater than 400 cm, the corresponding age would be at least 156 years old, the authors say. Based on these results, the Greenland shark is now the oldest-known vertebrate to roam the Earth. The previous record holders were tortoises, which often live for 150+ years, with one specimen in March 2006 dying at the age of 250.
The biology of Greenland sharks may provide clues that help to extend human longevity. In 2015, scientists mapped the genome of the bowhead whale in the hope of understanding the cause of its 200-year lifespan.
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8th August 2016
Limb regeneration in humans may be possible
Scientists have identified genetic regulators governing regeneration that are common across multiple species. The process could one day be replicated in humans.
Many lower organisms retain the miraculous ability to regenerate form and function of almost any tissue after injury. Humans share many of our genes with these organisms, but our capacity for regeneration is limited. Scientists at the MDI Biological Laboratory in Bar Harbor, Maine, are studying the genetics of these organisms to find out how regenerative mechanisms might be activated in humans.
The ability of animals to regenerate body parts has fascinated scientists since the time of Aristotle. But until the advent of sophisticated tools for genetic and computational analysis, there was no way of studying the molecular machinery that enables this process. Using such tools, researchers at MDI have identified genetic regulators governing regeneration that are common across species.
In a study published by the journal PLOS ONE, scientists Benjamin King, PhD, and Voot Yin, PhD, identified these common genetic regulators in three regenerative species: the zebrafish, a common aquarium fish originally from India; the axolotl, a salamander native to the lakes of Mexico; and the bichir, a ray-finned fish from Africa.
The discovery of genetic mechanisms common to all three of these species, which diverged on the evolutionary tree about 420 million years ago, suggests that these mechanisms aren't specific to individual species, but have been conserved by nature through evolution.
"I remember that day very well – it was a fantastic feeling," said King of the discovery. "We didn't expect the patterns of genetic expression to be vastly different in the three species, but it was amazing to see that they were consistently the same."
The discovery of the common genetic regulators is expected to serve as a platform to inform new hypotheses about the precise genetic mechanisms underlying limb regeneration. It also represents a major advance in understanding why many tissues in humans, including limb tissue, regenerate poorly – and in being able to possibly manipulate those mechanisms with drug therapies.
"Limb regeneration in humans may sound like science fiction, but it's within the realm of possibility," said Yin. "The fact that we've identified a genetic signature for limb regeneration in three different species with three different types of appendages suggests that nature has created a common genetic instruction manual governing regeneration that may be shared by all forms of animal life, including humans."
In particular, the scientists studied the formation of a mass of cells called a blastema that serves as a reservoir for regenerating tissues. The formation of a blastema is the critical first step in the regeneration process. Using sophisticated genetic sequencing technology, King and Yin identified a common set of genes that are controlled by a shared network of genetic regulators known as microRNAs.
"Scientists here are studying an evolutionarily diverse range of animals to gain insight into the genetic mechanisms underlying the repair and regeneration of complex tissues and why these processes are poorly active in humans," said Kevin Strange, PhD, the laboratory's president. "The value of our approach is confirmed by this remarkable study, which for the first time reveals a genetic network governing limb regeneration that is common across three evolutionarily distinct animal species."
The study also has implications for wound healing, which, because it also requires the replacement of lost or damaged tissues, involves similar genetic mechanisms. With a greater understanding of these mechanisms, treatments could potentially be developed to speed wound healing, thus reducing pain, decreasing risk of infection and getting patients back on their feet more quickly.
Another potential application is development of more sophisticated prosthetic devices. When a limb is amputated, the nerves at the site of amputation can be damaged. The repair and regeneration of these nerves could potentially enable the development of more sophisticated prostheses that could interface with these nerves, allowing for greater control.
While speedier wound-healing and improved prostheses may be on the nearer-term horizon, the ability to regrow limbs is a long way off. But how long? "It depends on the pace of discovery, which is heavily dependent on funding," Yin said. He predicted the timeline could be hastened if enough research funding were available. "Unfortunately," he added, "we are in a period of greatly diminished funding for scientific research."
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5th August 2016
Google and GSK invest £540M to create bioelectronic medicines
Google's Verily (formerly Google Life Sciences) has announced a partnership with British pharmaceutical giant, GlaxoSmithKline (GSK), to form Galvani Bioelectronics – a new company focused on the research, development and commercialisation of bioelectronic medicines.
An early prototype concept for a smart contact lens. This wearable tech would measure glucose levels in tears, using a tiny wireless chip and miniaturised sensor embedded between layers of soft contact lens material. When glucose levels fall below a certain threshold, tiny LED lights will activate themselves to function as a warning system for the wearer. Credit: Google
Verily (owned by Google's parent company, Alphabet) has announced an agreement with GSK to form Galvani Bioelectronics to accelerate the research, development and commercialisation of bioelectronic medicines. GSK will hold a 55% interest in the new jointly owned company and Verily will hold 45%.
Galvani Bioelectronics will be headquartered in the UK, with the parent companies contributing existing intellectual property rights and up to £540 million of investment over seven years, subject to successful completion of various discovery and development milestones.
Bioelectronic medicine is a relatively new scientific field that aims to tackle a wide range of chronic diseases using miniaturised, implantable devices that can modify electrical signals that pass along nerves in the body, including irregular or altered impulses that occur in many illnesses. GSK has been active in this field since 2012 and believes certain chronic conditions such as arthritis, diabetes and asthma could potentially be treated using these devices.
The agreement to establish Galvani Bioelectronics represents an important next step in GSK's bioelectronics research. It will combine GSK's world class drug discovery and development expertise, and deep understanding of disease biology, with Verily's world-leading technical expertise in the miniaturisation of low power electronics, device development, data analytics and software for clinical applications. The initial work will centre on establishing clinical proofs of principle in metabolic, inflammatory and endocrine disorders, including type 2 diabetes, where substantial evidence already exists in animal models; and developing the associated miniaturised, precision devices.
A chemical chip to control the delivery of the neurotransmitter acetylcholine. Credit: LiU/Ingemar Franzén
Moncef Slaoui, GSK's Chairman of Global Vaccines, who was instrumental in establishing GSK's investments in the field of bioelectronics, will chair the board of the new company: "Many of the processes of the human body are controlled by electrical signals firing between the nervous system and the body's organs, which become distorted in many chronic diseases," he said. "Bioelectronic medicine's vision is to employ the latest advances in biology and technology to interpret this electrical conversation and to correct the irregular patterns found in disease states, using miniaturised devices attached to individual nerves. If successful, this approach offers the potential for a new therapeutic modality alongside traditional medicines and vaccines.
"This agreement with Verily to establish Galvani Bioelectronics signals a crucial step forward in GSK's bioelectronics journey, bringing together health and tech to realise a shared vision of miniaturised, precision electrical therapies. Together, we can rapidly accelerate the pace of progress in this exciting field, to develop innovative medicines that truly speak the electrical language of the body."
Brian Otis, Verily's Chief Technology Officer, said: "This is an ambitious collaboration, allowing GSK and Verily to combine forces and have a huge impact on an emerging field. Bioelectronic medicine is a new area of therapeutic exploration, and we know that success will require the confluence of deep disease biology expertise and new highly miniaturised technologies.
"This partnership provides an opportunity to further Verily's mission by deploying our focused expertise in low power, miniaturised therapeutics and our data analytics engine to potentially address many disease areas with greater precision with the goal of improving outcomes."
Since 2012, a dedicated team of scientists at GSK has been researching the potential of bioelectronic medicines. In that time, the company has established a leadership position in the field, creating a global network of around 50 research collaborations and investing $50 million in a dedicated bioelectronics venture capital fund. Through these collaborations and investments, GSK has seen encouraging proof of principles in animal models in a range of diseases. GSK believes the first bioelectronic medicines could be ready for approval within the next decade.
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28th July 2016
New antibiotic discovered in the human nose
German researchers have found bacteria in the human nose that produce a novel antibiotic which is effective against multiresistant pathogens.
A potential lifesaver lies unrecognised in the human body. Scientists at the University of Tübingen and the German Centre for Infection Research (DZIF) have discovered that Staphylococcus lugdunensis (which colonises inside the human nose) produces a previously unknown antibiotic. As tests on mice have shown, the substance which has been named Lugdunin is able to combat multi-resistant pathogens, where many classic antibiotics have become ineffective. The study results were published on 27th July in the peer-reviewed journal Nature.
Infections caused by antibiotic-resistant bacteria – like the pathogen Staphylococcus aureus (MRSA) which colonises on human skin – are among the leading causes of death worldwide. The natural habitat of harmful Staphylococcus bacteria is the human nasal cavity. In their experiments, Dr. Bernhard Krismer, Alexander Zipperer and Professor Andreas Peschel from the Interfaculty Institute for Microbiology and Infection Medicine Tübingen (IMIT) observed that Staphylococcus aureus is rarely found when Staphylococcus lugdunensis is present in the nose.
"Normally, antibiotics are formed only by soil bacteria and fungi," explains Professor Andreas Peschel. "The notion that human microflora may also be a source of antimicrobial agents is a new discovery." In future studies, researchers will examine whether Lugdunin could actually be used in therapy. One potential use is introducing harmless Lugdunin-forming bacteria to patients at risk from MRSA as a preventative measure.
Staphylococcus lugdunensis (white) colonise on human nasal epithelial cells (pink) and combat the Staphylococcus aureus pathogen (yellow) by producing Lugdunin. Graphic: Professor Andreas Peschel.
Researchers from the Institute of Organic Chemistry at the University of Tübingen closely examined the structure of Lugdunin, noting that it consists of a previously unknown ring structure of protein blocks and thus establishes a new class of materials.
Antibiotic resistance is a growing problem worldwide. "There are estimates which suggest that more people will die from resistant bacteria in the coming decades than cancer," says Dr. Bernhard Krismer. "The improper use of antibiotics strengthens this alarming development" he continues.
As many of the pathogens are part of human microflora on skin and mucous membranes, they cannot be avoided. Particularly for patients with serious underlying illnesses and weakened immune systems they are a high risk – these patients are easy prey for the pathogens. Now the findings made by scientists at the University of Tübingen open up new ways to develop sustainable strategies for infection prevention and to find new antibiotics – also in the human body.
"If we can understand why they are living there [the nose] we may find new ways to combat bad bacteria, eradicate the spread of infection and maybe even find new therapeutic concepts, because we are in desperate need for new antibiotics," he concludes.
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17th June 2016
The first recorded mammalian extinction due to anthropogenic climate change
Australian researchers have announced that the Bramble Cay melomys is now likely extinct, adding: "Significantly, this probably represents the first recorded mammalian extinction due to anthropogenic climate change."
The Bramble Cay melomys. Credit: The University of Queensland
University of Queensland and Queensland Government researchers have confirmed that the Bramble Cay melomys – the only mammal species endemic to the Great Barrier Reef – is the first mammal to go extinct due to human-induced climate change. In their newly published report, the scientists describe how a comprehensive survey failed to find any trace of the rodent, which is also known as the mosaic-tailed rat. The animals were known only to live on a small island, Bramble Cay, just 340m long and 150m wide (1,120 ft × 490 ft) in the Torres Strait, between Australia and Papua New Guinea.
"Because a limited survey in March 2014 failed to detect the species, Bramble Cay was revisited from August to September 2014, with the explicit aims of establishing whether the Bramble Cay melomys still persisted on the island and to enact emergency measures to conserve any remaining individuals," said Dr Luke Leung, from the University of Queensland's School of Agriculture and Food Sciences.
"A thorough survey effort involving 900 small animal trap-nights, 60 camera trap-nights and active daytime searches produced no records of the species, confirming that the only known population of this rodent is now extinct. Anecdotal information obtained from a professional fisherman who visited Bramble Cay annually for the past 10 years suggested that the last known sighting of the Bramble Cay melomys was made in late 2009."
When first recorded by European sailors in 1845, the animals were seen in high density on the island. Ship crews reported shooting these "large rats" with their bows and arrows. In 1978, there were estimated to be several hundred melomys, but their numbers dwindled rapidly in subsequent decades. Just 10 were captured during a 2002 survey and 12 in 2004. The fact that such exhaustive efforts have now failed to record a single living animal at their only known location, while extensive surveys have not found it on any other islands along the Torres Strait or Great Barrier Reef, gives Dr Leung confidence that Australia has lost another mammal species.
The key factor responsible for the destruction of this population was almost certainly ocean inundation of the low-lying cay, Dr Leung said – very likely on multiple occasions during the past decade, causing dramatic habitat loss and perhaps also direct mortality of individuals. At its highest point, the cay sits just 3m (9.8 ft) above sea level. Around the Torres Strait, sea level rose at almost twice the global average rate between 1993 and 2014.
"Available information about sea-level rise and the increased frequency and intensity of weather events – producing extreme high water levels and damaging storm surges in the Torres Strait region over this period – point to human-induced climate change being the root cause of the loss of the Bramble Cay melomys," Leung said. "Significantly, this probably represents the first recorded mammal extinction due to anthropogenic climate change."
The International Union for Conservation of Nature and Natural Resources (IUCN) lists one other mammal – the Little Swan Island hutia – that was driven to extinction partly by extreme weather (the severe hurricane Janet in 1955). However, cats being introduced onto the island were considered the primary driver of their disappearance. In contrast, the Bramble Cay melomys has been lost "solely (or primarily) due to anthropogenic climate change."
Bramble Cay, the northernmost point of land of Australia.
Anthony D. Barnosky, a professor at the University of California, Berkeley, is a leading expert on the impacts of climate change on biodiversity. He called the disappearance of the melomys "a cogent example of how climate change provides the coup de grâce to already critically endangered species."
"I think this is significant because it illustrates how the human-caused extinction process works in real time," Dr. Barnosky added, noting that rising seas and storm surges had wiped out a species that had no possible escape route. "On land, we're seeing the same thing, except rather than water barriers, the barriers are the 51% of the Earth's land surface that has been taken over by people."
The loss of the Bramble Cay melomys is likely just the tip of the iceberg. There is widespread talk among scientists that Earth has entered a new geological era – termed the Anthropocene – with strong evidence that a sixth mass extinction is imminent. If the global average temperature increase exceeds 3.5°C (6.3°F), model projections suggest major extinctions (40-70% of species assessed) around the globe.
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4th June 2016
Pancreatic cancer survival could be increased from 16% to 29%
A new combination of chemotherapy drugs for pancreatic cancer, presented at the world's biggest cancer conference, shows long-term survival could be increased from 16% to 29%.
An extra 13 percent of pancreatic cancer patients will live for at least five years when given a combination of chemotherapy drugs compared with standard treatment, according to the results of a Cancer Research UK trial being presented at the American Society of Clinical Oncology (ASCO). Researchers involved in this major clinical trial have described the results as "incredibly exciting" and a "major win" in the fight against cancer. They are recommending the new treatment to become the standard therapy for patients with the disease.
Doctors on the trial – which took place in many hospitals across the United Kingdom, Germany, Sweden and France – treated 732 patients who had surgery to remove their tumour. Around half received the chemotherapy drug gemcitabine (currently the standard treatment for pancreatic cancer), while the other half received a combination of both gemcitabine and capecitabine. The trial showed that 29 per cent of patients given the drug combination lived at least five years compared with only 16 per cent of patients given gemcitabine alone. There was no significant difference in side effects between the patients on the standard treatment and the combination treatment.
The trial was set up in 2008 to address the very poor survival rates for pancreatic cancer. It is normally diagnosed at a late stage, when the cancer is already locally advanced or has spread to other parts of the body. An estimated 8,800 people die from the disease each year in the UK, making it the fifth leading cause of cancer death. In the USA the figure is 42,000, making it the fourth leading cause. Worldwide, it is responsible for 6% of all cancer deaths each year. The majority of cases occur in developed countries.
Professor John Neoptolemos from the University of Liverpool, who led the trial, commented: "This important trial shows that this drug combination could give pancreatic patients valuable extra months and even years and so will become the new treatment for patients with this disease. The difference in short term survival may seem modest, but improvement in long-term survival is substantial for this cancer.
"Although pancreatic cancer is difficult to treat, finding drugs that will shrink the tumour enough to make it suitable for surgery will help in the fight against this disease. We've learnt a lot about pancreatic cancer from our clinical trials and now this drug combination will become the new standard of care for patients with the disease."
Professor Peter Johnson, Cancer Research UK's chief clinician, said: "Nearly 10,000 people are diagnosed with pancreatic cancer each year in the UK and it remains a very difficult disease to find and treat. Despite this, we are making steady progress, through trials like this one, where the use of better chemotherapy after surgery was able to increase the number of people surviving the disease. We still have a long way to go, but Cancer Research UK is investing heavily into research to take on pancreatic cancer, and we are just starting to see the results."
Alex Ford, chief executive of Pancreatic Cancer UK, commented: "These are incredibly exciting results from a major trial for those diagnosed with this dreadful disease. The outlook for pancreatic cancer has been grim. With few treatment options, survival rates have barely changed in 40 years. At the same time, incidence is set to soar by a third, to more than 12,000 people being diagnosed every year by 2030. The possibility of increasing survival for those who have undergone surgery will give great hope to patients and their families who may benefit. The importance of clinical trials to help transform the outlook for pancreatic cancer cannot be over-estimated. We now need to see these results quickly translate to a change in approach by clinicians so that patients start to benefit more widely straightaway."
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2nd June 2016
First gene therapy for children is approved in Europe
Strimvelis, a gene therapy for a rare immune deficiency, which is also the first gene therapy for children, has been granted regulatory approval by the European Commission (EC).
Adenosine deaminase deficiency (ADA-SCID) is a very rare disorder caused by a faulty gene inherited from both parents. This faulty gene stops the production of an essential protein called adenosine deaminase (ADA), which is required for the production of lymphocytes (a type of white blood cell). Children born with ADA-SCID do not develop a healthy immune system, so cannot fight off everyday infections, which results in severe and life-threatening illness. The disorder often proves fatal within the child's first year of life. ADA-SCID is so rare that it is estimated to occur in just 15 patients per year in Europe.
Thankfully, hope is now arriving in the form of a breakthrough new treatment. British pharmaceutical company GlaxoSmithKline (GSK) – in partnership with Fondazione Telethon and San Raffaele Hospital in Italy – have announced a life-saving gene therapy known as Strimvelis. After more than 20 years of research and development, the European Commission (EC) has just granted regulatory approval of this medicine. Strimvelis will be the first corrective gene therapy for children anywhere in the world. It is recommended for the treatment of patients with ADA-SCID for whom no suitable human leukocyte antigen (HLA)-matched related stem cell donor is available.
Martin Andrews, Head of the Rare Disease Unit at GSK, commented: "Today's approval is the result of many years' work with our collaborators in Milan and is the next step towards bringing life-changing treatment to patients with ADA-SCID and their families. This is the start of a new chapter in the treatment of rare genetic diseases. We hope that this therapeutic approach could also be used to help patients with other rare diseases in the future."
The decision to approve was based on data collected from 18 children. A 100% survival rate at three years post-treatment with Strimvelis was observed for all children in the pivotal study and every child receiving the treatment who contributed to the data package is alive today, with a median follow-up duration of approximately seven years. Full results of the analysis were published recently in the journal BLOOD1.
Strimvelis is only administered once and does not rely on a third-party donor, so there is no risk of immune incompatibility causing rejection, which is a common side effect of bone marrow transplant treatments. With Strimvelis, the patient's own bone marrow cells are removed, and a vector is used to insert a normal copy of the ADA gene into the cells. This step is known as transduction. The gene-corrected cells are then re-introduced to the patient through an intravenous infusion, after which some of the cells home back to the bone marrow.
Professor Alessandro Aiuti, Clinical Research Coordinator in a joint research collaboration between Fondazione Telethon and San Raffaele Hospital, said: "We are delighted with today's news, which marks the culmination of more than 20 years of research and development. This innovative and individualised treatment approach uses a patient's own gene modified stem cells to correct the root cause of the disease. It has been gratifying for all of us to see patients affected by this severe immune deficiency growing over the years, being able to play with other children and then going to school. Working alongside GSK, we can now make Strimvelis available to ADA-SCID patients and transform the lives of children who so desperately need it."
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