| Health & Wellbeing
Update January 20, 2018 - January 26, 2018
In a milestone year, gene therapy finds a place in medicine
In this Monday, Nov. 6, 2017 file photo, Brian Madeux sits with his
girlfriend Marcie Humphrey while waiting to receive the first human gene
editing therapy at the UCSF Benioff Children’s Hospital in Oakland,
Calif. Madeux, who has Hunter syndrome, received the treatment on
Monday, Nov. 13. (AP Photo/Eric Risberg)
After decades of hope and high
promise, this was the year scientists really showed they could doctor
DNA to successfully treat diseases. Gene therapies to treat cancer and
even pull off the biblical-sounding feat of helping the blind to see
were approved by U.S. regulators, establishing gene manipulation as a
new mode of medicine.
Almost 20 years ago, a teen’s death
in a gene experiment put a chill on what had been a field full of
outsized expectations. Now, a series of jaw-dropping successes have
renewed hopes that some one-time fixes of DNA, the chemical code that
governs life, might turn out to be cures.
“I am totally willing to use the
‘C’ word,” said the National Institutes of Health’s director, Dr.
Gene therapy aims to treat the root
cause of a problem by deleting, adding or altering DNA, rather than just
treating symptoms that result from the genetic flaw.
The advent of gene editing - a more
precise and long-lasting way to do gene therapy - may expand the number
and types of diseases that can be treated. In November, California
scientists tried editing a gene inside someone’s body for the first
time, using a tool called zinc finger nucleases for a man with a
metabolic disease. It’s like a cut-and-paste operation to place a new
gene in a specific spot. Tests of another editing tool called CRISPR, to
genetically alter human cells in the lab, may start next year.
“There are a few times in our lives
when science astonishes us. This is one of those times,” Dr. Matthew
Porteus, a Stanford University gene editing expert, told a Senate panel
discussing this technology last month.
It’s a common path for
trail-blazing science - success initially seems within reach, setbacks
send researchers back to the lab, new understandings emerge over years,
and studies ultimately reveal what is safe and effective.
Here is a look at what’s been
achieved and what lies ahead.
A string of firsts
The year started with no gene
therapies sold in the U.S. and only a couple elsewhere. Then the Food
and Drug Administration approved the first CAR-T cell therapies, which
alter a patient’s own blood cells to turn them into specialized cancer
killers. They’re only for certain types of leukemia and lymphoma now,
but more are in the works for other blood cancers.
Last week, the FDA approved
Luxturna, the first gene therapy for an inherited disease, a form of
blindness. People with it can’t make a protein needed by the retina,
tissue at the back of the eye that converts light into signals to the
brain, enabling sight. The therapy injects a modified virus containing a
corrective gene into the retina so the cells can make the protein.
Children who received the treatment
told what it was like to gain vision.
“Oh yikes, colors. Colors are super
fun,” said 13-year-old Caroline Carper of Little Rock, Arkansas. “And
the sunshine is blinding.”
Gene therapies also showed some
promise against a variety of diseases including hemophilia, a blood
clotting problem; “bubble boy” disease, where a flawed immune system
leaves patients vulnerable to fatal infections, and sickle cell disease,
a serious and painful blood disorder common among black people.
It’s not all good news, though. The
therapies don’t work for everyone. They’re shockingly expensive. And no
one knows how long some results will last, though scientists say the aim
is a one-time repair that gets at the root cause.
“The whole promise ... is to cure
diseases. It’s based on the rationale of fixing the problem,” not just
improving treatment, said Dr. Carl June, a University of Pennsylvania
scientist who pioneered CAR-T therapy.
A new frontier:
In mid-November, Brian Madeux, a
44-year-old Phoenix man with a metabolic disease called Hunter syndrome,
had just become the first person to try an experimental gene editing
“I believe in science,” he texted
The Associated Press after doctors sent viruses containing a corrective
gene and an editing tool through an IV into his body. The hope is that
the gene and the editing tool would enter some of his liver cells and
insert the instructions needed to start making an enzyme he lacks.
It’s not known yet if it worked.
Sangamo Therapeutics is testing its therapy in several studies, and
independent monitors will help decide when results are released.
“It’s a pretty exciting milestone,”
Collins said, because it shows a way to treat more diseases than ones
that can be addressed now by altering blood cells in the lab or
injecting genes into the eye.
“You can imagine having a scalable
approach to thousands of genetic diseases,” he said.
Top of Collins’ list: muscular
dystrophy and sickle cell.
There’s been so much progress that
the NIH has modified an oversight panel that just a few years ago
reviewed every gene therapy experiment in the U.S. Most are considered
safe enough to go ahead without the Recombinant DNA Advisory Committee’s
review. The panel hasn’t even met for a year.
When the panel was formed decades
ago, “there was a lot of concern that a graduate student could take some
of this home and create a monster in his basement,” said one panel
member, Boston scientist Dr. Howard Kaufman.
Those fears have eased, he said.
“There’s no monsters that have
materialized from this.”
Update January 13, 2018 - January 19, 2018
Veterinarians seek permission to research pot meds for pets
In this Monday, Oct. 30, 2017, photo, Luke Byerly tends to
his 14-year-old beagle, Robbie, during a break at Byerly’s job
as a technician at a veterinary clinic in east Denver. Byerly is
using CBD, a non-psychoactive component of marijuana, oil to
treat the dog’s arthritis. (AP Photo/David Zalubowski)
Ore. (AP) - Dr. Byron Maas surveys a
supply of marijuana products for dogs that lines a shelf in his
veterinary clinic. They’re selling well.
and Moving’ is for joints and for pain,” he explains. “The ‘Calm
and Quiet’ is for real anxious dogs, to take away that anxiety.”
anxious to relieve suffering in their pets are increasingly
turning to oils and powders that contain CBDs, a
non-psychoactive component of marijuana. But there’s little data
on whether they work, or if they have harmful side effects.
because Washington has been standing in the way of clinical
trials, veterinarians and researchers say. Now, a push is
underway to have barriers removed, so both pets and people can
barriers have had more than just a chilling effect.
federal Drug Enforcement Administration announced last year that
even marijuana extracts with CBD and little or no THC -
marijuana’s intoxicating component - are an illegal Schedule 1
drug, the University of Pennsylvania halted its clinical trials.
Colorado State University is pushing ahead.
Food and Drug Administration has warned companies that sell
marijuana products online and via pet shops and animal hospitals
that they’re violating laws by offering “unapproved new animal
drugs.” The FDA threatened legal action.
potential benefits of CBDs, the American Veterinary Medical
Association’s policy-making body said last summer it wants the
DEA to declassify marijuana as a Schedule 1 drug “to facilitate
research opportunities for veterinary and human medical uses.”
It asked the board of the national veterinarians’ organization
to investigate working with other stakeholders toward that goal.
The board is awaiting a recommendation from two group councils.
concern our membership has is worry about people extrapolating
their own dosages, looking to medicate their pets outside the
realm of the medical professional,” Board Chairman Michael
Whitehair said in a telephone interview. “This is an important
reason for us to continue the research.”
Orrin Hatch, a conservative Republican, became an unlikely
champion of this push when he introduced a bill in September
that would open the path for more clinical research. While Hatch
said he opposes recreational marijuana use, he wants
marijuana-based drugs, regulated by the FDA, produced for people
the science to support use of medical marijuana products like
CBD oils, not because researchers are unwilling to do the work,
but because of bureaucratic red tape and over-regulation,” Hatch
Boothe, of Auburn University’s College of Veterinary Medicine,
is waiting for federal approval to begin a study of marijuana’s
effects on dogs with epilepsy. The classification of marijuana
products containing CBD as a Schedule 1 drug, the same category
as heroin and LSD, creates a “major, major, major, terrible
roadblock” for researchers, Boothe said in a phone interview.
at the University of Pennsylvania School of Veterinary Medicine
were studying CBDs’ effects on dogs with osteoarthritis and
pruritis, or itchiness, until the DEA released its policy
ambiguity in this process has really brought us to a screeching
halt,” said Michael DiGregorio, director of the university’s
clinical trials center. “It is research that needs to be done,
because there are a lot of CBD products out there.”
clarified that marijuana CBD extracts are Schedule 1 drugs, the
DEA said it was assigning a code number to those substances to
better track them and to comply with international drug control
complained that researchers seeking federal approval to study
CBD products are told to provide certain data, but that data
isn’t normally available until the study is done.
don’t have the data, you can’t get the registration to do the
work,” he said.
On a recent
morning, Maas took a break from seeing four-legged patients in
the Bend Veterinary Clinic. A stethoscope dangling from his neck
over green scrubs, Maas said his clients have reported CBDs help
relieve pain, arthritis, anxiety, loss of appetite, epilepsy and
inflammation in their pets.
“Unfortunately there’s not a lot of research out there,
especially on animals, on CBD compounds,” Maas said. “The
research is really necessary to help us understand how to
actually use these compounds on our pets.”
Veterinarian Janet Ladyga of the Blue Sky Veterinary Clinic,
also in Bend, said she doesn’t recommend marijuana products
because of the unknowns.
have a lot of evidence right now, so we don’t know the toxicity
or the safety profile ... and we don’t have any good evidence to
show either if it’s safe or efficacious,” she said.
at Colorado State University aims to provide some data. The
roughly two dozen dogs in the arthritis study and the 30 in the
epilepsy tests are given either CBD oil or a placebo. For the
arthritis study, activity monitors are attached to the animals’
collars, to determine if they’re more mobile when they’re taking
investigator Stephanie McGrath said she hopes the results will
be a stepping stone for longer and more diverse studies, and
that they provide useful information for human medicine.
medication we’re taking has been given to a dog first,” the
University of Pennsylvania’s DiGregorio noted.
Boothe said she had everything ready to start her study in
January, and was waiting for a green light from federal
know what’s taking so long,” she said.
Update Saturday, Jan. 6 - Jan. 12, 2018
Deaths from window blinds show need for cord ban, study says
This file photo shows
a warning label of strangulation risks from mini blind cords in
Washington. According to a study released this month, children’s
injuries and deaths from window blinds have not stalled despite decades
of safety concerns. (AP Photo/Jacquelyn Martin)
Chicago (AP) -
Children’s injuries and deaths from window blinds have not stalled
despite decades of safety concerns, according to a new U.S. study that
recommends a complete ban on blinds with cords.
Nearly 17,000 young
children were hurt by window blinds between 1990 and 2015, and though
most injuries were minor, almost 300 died, the study shows. Most deaths
occurred when children became entangled or strangled by the cords.
even after manufacturers adopted voluntary safety standards including
warning labels. The industry now has a plan in the works to make
cordless blinds the only option at retail stores and online.
The study “should
be a huge wake-up call to the public, to the retailers, to the
manufacturers and to parents all over the nation to really see how
hazardous the cords on the blinds are,” said Linda Kaiser of St Louis.
Her 1-year-old daughter died in 2002 from strangulation when she pulled
a looped hidden cord from a blind and put it around her neck. Kaiser
later formed the advocacy group Parents for Window Blind Safety.
While study’s data
analysis doesn’t show an up or down trend in injuries and deaths, the
fact that they’re still occurring shows that safety standards have been
inadequate, said lead author, Dr. Gary Smith, who directs injuries
research at Nationwide Children’s Hospital in Columbus, Ohio.
spokesman for the Window Covering Manufacturers Association, said a
soon-to-be adopted industry standard drafted with input from the
Consumer Product Safety Commission will make corded blinds unavailable
in stores and online, although consumers could buy them through custom
commission says windows and window blinds are among the top five hidden
hazards in U.S. homes and in a statement, it called the draft standard
“a major step forward in protecting children.”
That standard is
awaiting approval by the American National Standards Institute and is
expected to take effect by late 2018, Nathanson said.
Smith said 20
percent are custom blinds and a total ban on corded blinds is needed.
The study was
published Monday in the journal Pediatrics.
His research team
analyzed 26 years of U.S. government data on emergency room treatment
and fatal injuries. The study notes that the dangers have been addressed
in medical journal articles as far back as a 1945 report on two
accidental hangings in children who survived.
“Seventy years ago
we recognized that this was a product that was killing kids,” Smith
said. “We should put child safety first.”
Baby gene therapy study offers hope
for fatal muscle disease
Washington (AP) -
A first attempt at gene therapy for a disease that leaves babies unable to
move, swallow and, eventually, breathe has extended the tots’ lives, and
some began to roll over, sit and stand on their own, researchers reported.
Only 15 babies with
spinal muscular atrophy received the experimental gene therapy, but
researchers in Ohio credited the preliminary and promising results to
replacing the infants’ defective gene early - in the first few months of
life, before the neuromuscular disease destroyed too many key nerve cells.
“They all should have
died by now,” said Dr. Jerry Mendell of Nationwide Children’s Hospital, who
led the work published by The New England Journal of Medicine. Yet,
“those babies are still improving.”
Mendell cautioned that
much more study is needed to prove the gene therapy works and is safe. Nor
is it clear whether the replacement gene’s effects would wane over time.
Spinal muscular atrophy
occurs in about 1 in 10,000 births, and those with the most severe form,
called SMA Type 1, rarely reach their second birthday. They can be born
looking healthy but rapidly decline. One study found just 8 percent of the
most severely affected survived to age 20 months without needing permanent
mechanical ventilation to breathe.
There is no cure. The
first treatment wasn’t approved until last December - a drug named Spinraza
that requires spinal injections every few months.
The experimental gene
therapy approach aims for a one-time fix.
What goes wrong
Spinal muscular atrophy
is caused when a mutated gene can’t produce a protein crucial for survival
of motor neurons, nerve cells in the spinal cord that control muscles.
Some children carry
extra copies of a backup gene that produces small amounts of the vital
protein, and thus have much milder forms of the disease.
Scientists loaded a
healthy version of the gene into a virus modified so it couldn’t cause
illness. Then 15 babies got a one-time intravenous injection. The virus
carried the healthy gene into motor neurons, where it got to work producing
the protein those nerve cells require to live.
Three babies received a
low dose of the gene therapy, as a first-step safety precaution. The
remaining 12 got a high dose.
All of the children are
alive, Mendell said, about two years and counting after treatment. All beat
the odds of needing permanent machine help to breathe by age 20 months.
But only the high-dose
recipients saw better motor control, reaching some developmental milestones
usually unthinkable for these patients. Eleven could sit unassisted at least
briefly; nine could roll over. Eleven are speaking and able to swallow. Two
were able to crawl, stand and then walk, Mendell’s team reported.
Those results are “very
striking,” said Dr. Basil Darras, who directs Boston Children’s Hospital’s
neuromuscular center and wasn’t involved in the new research.
While the treatment
needs testing on far more babies, usually “there are no further
developmental gains” after diagnosis, Darras explained. “They stagnate for a
while and they go downhill very fast and die.”
The only serious side
effect attributed to the gene therapy so far involved possible signs of a
liver problem that eased with treatment.
AveXis Inc., which is
developing the gene therapy and helped fund Wednesday’s study, has opened a
second small trial at seven hospitals.
Meanwhile, doctors are
prescribing SMA patients the new medication Spinraza, which works by
increasing that backup gene’s protein production and, according to a
separate New England Journal study, had some benefit in about half of
patients. The first year of treatment costs about $750,000, an accompanying
With the drug’s
availability, some health groups are urging that SMA be added to the list of
diseases that all newborns are screened for, so parents can seek early