Update Saturday, Nov. 25 - Dec. 1, 2017
Boy with rare disease gets brand new skin with gene therapy
In this undated photo, technicians lift up a
sheet of human skin cells at the Center for Regenerative Medicine at the
University of Modena in Italy. Doctors there used a skin sample from a
critically ill boy in Germany to create nearly an entirely new skin for
him, after adding a corrected version of a gene responsible for his
disease. (CMR Unimore via AP)
London (AP) - Doctors
treating a critically ill boy with a devastating skin disease used
experimental gene therapy to create an entirely new skin for most of his
body in a desperate attempt to save his life.
Two years later, the doctors report
the boy is doing so well that he doesn’t need any medication, is back in
school and even playing soccer.
“We were forced to do something
dramatic because this kid was dying,” said Dr. Michele De Luca of the
University of Modena in Italy, who got a call for help from the German
doctors treating the boy.
The boy, then 7, was hospitalized
in June 2015 with blisters on his limbs, back and elsewhere. He quickly
lost about 60 percent of the outer layer of his skin and was put into an
induced coma to spare him further suffering. Doctors at Children’s
Hospital at Ruhr University in Bochum, Germany, tried skin grafts from
his father and donor skin, but all failed.
“He was in severe pain and asking a
lot of questions,” the boy’s father said in a video provided by the
hospital “Why do I suffer from this disease? Why do I have to live this
life? All children can run around and play, why am I not allowed to play
soccer? I couldn’t answer these questions.”
The boy’s parents asked about
experimental treatments, and De Luca and his colleagues were contacted.
They had previously used gene therapy to produce a small piece of skin
in a similar case. They told the family that the boy’s precarious state
meant that he might not survive the complicated surgeries needed to save
“It was a tough decision for us,
but we wanted to try for (our son),” the boy’s father said. The family
asked that their names not be used to protect the boy’s privacy.
The boy had a rare, incurable skin
disease called junctional epidermolysis bullosa, caused by genetic
mutations. People with the disease lack critical proteins that attach
the outer layer of the skin to the inner layer, resulting in fragile
skin with almost constant blisters and open sores.
To fix that, the doctors took a
small piece of the boy’s skin from an area that was OK. In the lab, they
added a normal version of his bad gene to his skin cells. They grew
sheets of the boy’s skin, in much the same way skin grafts are grown for
In total, they grew close to a
square meter of skin (9 square feet.) The lab-grown skin was then
transplanted onto the boy in three operations, ultimately covering 80
percent of his body. Ten days later, the new skin was already beginning
to grow, De Luca said. After eight months, the doctors said that nearly
all of the boy’s skin had been generated by the modified stem cells.
So far, no problems have been
detected. De Luca said the boy will be monitored closely for skin cancer
and other potential issues.
“This kid is back to his normal
life again,” one of the German doctors, Dr. Tobias Rothoeft, said
Wednesday. “That’s what we dreamed of doing and it was possible.”
Details of the case were published
Wednesday in the journal Nature.
“This takes us a huge step
forward,” said Dr. Peter Marinkovich of Stanford University School of
Medicine, who has done related work. He said it was impressive that De
Luca and colleagues were able to make such large amounts of viable skin
after correcting the genetic defect.
But he noted the approach might not
help in more serious cases, which often have tricky complications, like
skin blistering in the lungs. Marinkovich said many patients don’t
survive beyond age 2 and that using the treatment for babies could be
Dr. Holm Schneider warned that some
severely ill patients might have an extreme reaction to skin transplants
with an added gene.
“The immune system might recognize
this new gene as something foreign to be attacked and destroyed,” said
Schneider, of the University Hospital Erlangen in Germany. Still, he
said the approach was worth trying in dying patients.
The boy and his family later
visited De Luca and the other Italian doctors involved in his treatment.
“The parents are very grateful and
say their life has completely changed,” De Luca said, recalling how the
boy spontaneously began taking off his clothes. “The boy was so happy
with his new skin that he wanted to show off.”
Update Saturday, Nov. 18 - Nov. 24, 2017
FDA moves to ax claim for heart
benefits from soy foods
This file photo shows the ingredients label
for soy milk at a grocery store in New York. The U.S. Food and Drug
Administration announced it wants to remove a health claim about the
heart benefits of soy from cartons of soy milk, tofu and other foods,
saying the latest scientific evidence no longer shows a clear
connection. (AP Photo/Patrick Sison, File)
Washington (AP) - U.S.
regulators want to remove a health claim about the heart benefits of soy
from cartons of soy milk, tofu and other foods, saying the latest
scientific evidence no longer shows a clear connection.
The announcement by the Food and
Drug Administration marks the first time the agency has moved to revoke
a health food claim since it began approving such statements in 1990.
The claim that soy protein can reduce heart disease appears on about 200
to 300 products in the U.S., according to industry figures, including
popular brands like Silk soy milk.
Calls to WhiteWave Foods Company,
which markets Silk brand soy products, were not immediately returned.
The FDA first approved the language
about the benefits in 1999 based on studies suggesting soy protein
lowered a type of heart-damaging cholesterol in the bloodstream. But
some later studies have failed to show a clear link.
One 2005 study by the U.S.
government’s Agency for Healthcare Research and Quality found that soy
products had little effect on bad cholesterol. The FDA began
reevaluating the food claim in 2007 and said, “The totality of the
evidence is inconsistent and not conclusive.”
The agency will take comments on
its proposal for 75 days before moving ahead. If the language is
removed, companies may still be able to use a less definitive statement
about soy’s benefits by including a disclaimer or description of the
Consumer advocates backed the
proposal, arguing that earlier research misinterpreted soy’s effect on
Bonnie Liebman, a nutrition
scientist at the Center for Science in the Public Interest, explained
that a person might benefit by replacing red meat with soy, but the
benefit would be from the reduction in red meat, not because of anything
special in the soy protein.
The FDA estimates it will cost
companies between $370,000 and $860,000 in upfront costs to re-label
their products, according to a federal filing posted online.
An industry group for soy
manufacturers disputed the FDA’s decision and pointed to 12 other
countries, including Canada, that have approved health labeling claims
making the link between soy protein and heart benefits. The group,
Soyfoods Association of North America, said it would make its case to
the FDA during the comment period.
US regulators approve 2nd gene therapy for blood cancer
Cell therapy specialists at Kite
Pharma’s manufacturing facility in El Segundo, Calif., prepare
blood cells from a patient to be engineered in the lab to fight
cancer. (Kite Pharma via AP, File)
Linda A. Johnson
Trenton, N.J. (AP) -
U.S. regulators have approved a second gene therapy for a blood
cancer, a one-time, custom-made treatment for aggressive
lymphoma in adults.
The Food and Drug
Administration allowed sales of the treatment from Kite Pharma.
It uses the same technology, called CAR-T, as the first gene
therapy approved in the U.S. in August, a treatment for
childhood leukemia from Novartis Pharmaceuticals.
“In just several decades,
gene therapy has gone from being a promising concept to a
practical solution to deadly and largely untreatable forms of
cancer,” FDA Commissioner Dr. Scott Gottlieb said in a
The treatment, called
Yescarta, will cost $373,000 per patient, according to drugmaker
Gilead Sciences. Kite became a subsidiary of Foster City,
California-based Gilead this month.
CAR-T treatment uses gene
therapy techniques not to fix disease-causing genes but to
turbocharge T cells, immune system soldiers that cancer can
often evade. The T cells are filtered from a patient’s blood,
reprogrammed to target and kill cancer cells, and then hundreds
of millions of copies are grown.
Returned to the patient,
all the revved-up cells can continue multiplying to fight
disease for months or years. That’s why these immunotherapy
treatments are called “living drugs.”
“Today’s approval of
Yescarta is a very significant advance for lymphoma patients and
for the cancer community as a whole,” Louis J. DeGennaro,
president of the Leukemia & Lymphoma Society, said in a
statement. “Immunotherapy is dramatically changing the way we
approach blood cancer treatment.”
Kite’s therapy is for
patients with three types of aggressive, or fast-growing, large
B-cell lymphoma. The most common one accounts for about a third
of the estimated 72,000 new cases of non-Hodgkin lymphoma
diagnosed each year.
Yescarta, also known as
axicabtagene ciloleucel, was approved for patients who have
already been treated with at least two cancer drugs that either
didn’t work for them or eventually stopped working.
At that point, patients are
generally out of options and only have about a 10 percent chance
of even temporary remission of their cancer, said Dr. Frederick
Locke, director of research for the Immune Cell Therapy Program
at Moffitt Cancer Center in Tampa, Florida. Locke helped run
patient tests of Yescarta.
“This is really an exciting
advance for patients without hope,” Locke said.
Yescarta is not a benign
treatment, though: Three people died after getting the
treatment, which can cause serious side effects. The FDA is
requiring Kite to do a long-term safety study and train
hospitals to quickly spot and handle those reactions.
In the key test, Yescarta
was given to 101 patients. About 72 percent saw their cancer
shrink and about half showed no sign of disease eight months
While it is billed as a
one-time treatment, because the patients’ cancer is so far
advanced, it returns in some. The therapy is still working in
most study participants, so the average duration of its effects
isn’t known yet.
A different type of gene
therapy is waiting in the wings at the FDA. Spark Therapeutics’
treatment for a rare form of blindness could be approved within
months. It aims to improve vision by replacing a defective gene
needed to process light.
Other gene therapies for
blood cancers are being tested and scientists think they may
work for solid tumors within several years.
Update Saturday, Nov. 11 - Nov. 17, 2017
Ultra-personal therapy: Gene tumor
boards guide cancer care
Cancer patient Alison Cairnes poses for a
portrait at the University of California San Diego in San Diego, Calif.
(AP Photo/Gregory Bull)
San Diego (AP) - Doctors
were just guessing a decade ago when they gave Alison Cairnes’ husband a
new drug they hoped would shrink his lung tumors. Now she takes it, but
the choice was no guesswork. Sophisticated gene tests suggested it would
fight her gastric cancer, and they were right.
Cancer patients increasingly are
having their care guided by gene tumor boards, a new version of the
hospital panels that traditionally decided whether surgery, radiation or
chemotherapy would be best. These experts study the patient’s cancer
genes and match treatments to mutations that seem to drive the disease.
“We dissect the patient’s tumor
with what I call the molecular microscope,” said Dr. Razelle Kurzrock,
who started a board at the University of California, San Diego, where
Cairnes is treated.
It’s the kind of care many experts
say we should aim for - precision medicine, the right drug for the right
person at the right time, guided by genes. There are success stories,
but also some failures and many questions:
Will gene-guided care improve
survival? Does it save money or cost more? What kind of gene testing is
best, and who should get it?
“I think every patient needs it,”
especially if cancer is advanced, said Kurzrock, who consults for some
gene-medicine companies. “Most people don’t agree with me - yet. In five
years, it may be malpractice not to do genomics.”
Few people get precision medicine
today, said Dr. Eric Topol, head of the Scripps Translational Science
Institute. “The only thing that’s gone mainstream are the words.”
If you have a cancer that might be
susceptible to a gene-targeting drug, you may be tested for mutations in
that gene, such as HER2 for breast cancer. Some breast or prostate
cancer patients also might get a multi-gene test to gauge how aggressive
treatment should be.
Then most patients get usual
guideline-based treatments. If there’s no clear choice, or if the
disease has spread or comes back, doctors may suggest tumor profiling -
comprehensive tests to see what mutations dominate.
That’s traditionally been done from
a tissue sample, but newer tests that detect tumor DNA in blood - liquid
biopsies - are making profiling more common. The tests cost about $6,000
and many insurers consider them experimental and won’t pay.
Gene tumor boards analyze what the
results suggest about treatment. They focus on oddball cases like a
breast cancer mutation in a colon cancer patient, or cancers that have
widely spread and are genetically complex. The only options may be
experimental drugs or “off-label” treatments - medicines approved for
But as tumor profiling grows, it’s
revealing how genetically diverse many tumors are, and that oddball
cases are not so rare, said Dr. John Marshall. He heads the virtual
tumor board at Georgetown Lombardi Comprehensive Cancer Center that also
serves cancer centers in Pennsylvania, North Carolina, Michigan and
“There is a little bit of faith”
that testing will show the right treatment, but it’s not a sure thing,
said Dr. Lee Schwartzberg, who heads one participating center, the West
Cancer Center in Memphis.
Dr. Len Lichtenfeld, the American
Cancer Society’s deputy chief medical officer, is optimistic yet wary.
Drugs that target BRAF mutations work well for skin cancers called
melanomas, but less well for lung or colon cancers.
“Just because a mutation occurs it
doesn’t mean that drug is going to work in that cancer,” he said.
When it does, results can be
dramatic. Cairnes’ cancer was between her stomach and esophagus, and had
spread to her liver, lungs and lymph nodes. Tissue testing found 10
abnormal genes, but on the liquid biopsy only EGFR popped out as a good
Two drugs aim at that gene but
aren’t approved for her type of cancer. A tumor board advised trying
both - Erbitux and Tarceva, the drug her husband also had taken. Within
two weeks, she quit using pain medicines. After two months, her liver
tumor had shrunk roughly by half. There are signs that cancer may
remain, but it is under control. She feels well enough to travel and to
take care of her granddaughter.
“I’m very, very grateful to have a
targeted therapy,” Cairnes said.
“I cannot expect a better outcome
than what we’re seeing right now,” said her doctor, Shumei Kato.
But is gene-guided treatment better
than usual care? French doctors did the first big test, with
disappointing results. About 200 patients with advanced cancer were
given whatever their doctors thought best or off-label drugs based on
tumor profiling. Survival was similar - about two months.
Another French study, reported in
June, was slightly more encouraging on survival but exposed another
problem: No drugs exist for many gene flaws. Tests found treatable
mutations in half of the 2,000 participants and only 143 got what a
tumor board suggested.
Some doctors worry that tumor
boards’ recommending off-label treatments diverts patients from research
that would benefit all cancer patients. For example, the American
Society of Clinical Oncology’s TAPUR study tests off-label drugs and
shares results with their makers and federal regulators.
Ann Meffert, who lives on a dairy
farm in Waunakee, Wisconsin, endured multiple standard treatments that
didn’t defeat her bile duct cancer.
“She was going to be referred to
hospice; there was not much we could do,” said Dr. Nataliya Uboha, who
took the case to a tumor board at the University of Wisconsin-Madison.
The panel gave several options, including off-label treatment, and
Meffert chose a study that matches patients to gene-targeting therapies
and started on an experimental one last October.
“Two weeks in, I started feeling
better,” she said, and when she saw test results, “I couldn’t believe
Many lung spots disappeared and the
liver tumor shrank 75 percent. She is not cured, though, and doctors are
thinking about next steps. And that could involve a fresh look at her
Update Saturday, Nov. 4 - Nov. 10, 2017
FDA approves better vaccine against painful shingles virus
On Friday, Oct. 20, 2017, the Food and Drug
Administration approved the Shingrix vaccine to prevent painful shingles in
people aged 50 or older. (GlaxoSmithKline via AP)
Linda A. Johnson
U.S. regulators have approved a new,
more effective vaccine to prevent painful shingles, which is caused by the
Drugmaker GlaxoSmithKline said the Food
and Drug Administration approved it late Friday. It will be the second
shingles vaccine in the U.S. market. Merck launched the first one in 2006.
Studies paid for by Glaxo found it
prevents shingles in about 90 percent of people. Merck’s is about 50 percent
Both versions are for adults 50 and
older. The U.S. Centers for Disease Control and Prevention, though,
recommends vaccination for those 60 or older, partly because it loses
effectiveness over time.
Anyone who’s had chickenpox - nearly
everyone over 40 - harbors the varicella-zoster virus that causes the
disease. The virus can resurface decades later, triggering painful sores on
one side of the body. About 10 to 20 percent of those who get shingles also
develop debilitating nerve pain that can last for months, even years.
About one-third of people who have had
chickenpox get shingles. That’s about 1 million Americans a year. But once
someone has recovered from shingles, it rarely reoccurs.
Chickenpox was a very common childhood
illness until a Merck vaccine was introduced two decades ago; it’s now part
of routine childhood shots.
GlaxoSmithKline PLC said the price of
its shingles vaccine, called Shingrix, will be $280 for the required two
shots. Merck & Co.’s one-shot Zostavax costs $223. Most insurance plans
The two vaccines are made differently.
Glaxo’s is genetically engineered and includes an ingredient that boosts
effectiveness. In addition to preventing shingles, it also reduces the risk
of nerve pain by nearly 90 percent. Glaxo studies also show it retains about
90 percent of its effectiveness for four years, and follow-up studies
indicate it lasts years longer, according to Dr. Leonard Friedland, Glaxo’s
vaccines director for North America.
Merck’s vaccine uses a live but
weakened virus, so it can’t be used by people with compromised immune
systems. It reduces risk of shingles by half and risk of nerve pain by 67
percent, according to the CDC. One study found it doesn’t prevent shingles
after eight years.
More research is being done. Glaxo is
testing its vaccine against Merck’s. Meanwhile, Merck has been testing a
different vaccine on cancer patients and people with compromised immune