[But elation over the approvals was tempered by concerns the
breakthrough treatments may not be accessible to many sickle cell
patients, both are very expensive.]
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SUNDAY SCIENCE: FDA APPROVES FIRST GENE-EDITING TREATMENT FOR HUMAN
ILLNESS  
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Rob Stein
December 8, 2023
NPR
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_ But elation over the approvals was tempered by concerns the
breakthrough treatments may not be accessible to many sickle cell
patients, both are very expensive. _

"I'm ecstatic. It's a blessing that they approved this therapy," said
Victoria Gray, the first person in the U.S. to undergo CRISPR
gene-editing for sickle cell, of the Food and Drug Administration's
decision., Orlando Gili

 

HEARD ON ALL THINGS CONSIDERED

In a landmark decision, the Food and Drug Administration Friday
approved the first gene-editing treatment to alleviate human illness.

The FDA approved two gene therapies for anyone 12 and older suffering
from the most severe form of sickle cell disease
[[link removed]], a brutal blood
disorder that has long been neglected by medical research.

The decisions are being hailed as milestones for treating sickle cell
and for the rapidly advancing field of gene editing, which is stirring
excitement for treatment of many diseases.

"Sickle cell disease is a rare, debilitating and life-threatening
blood disorder with significant unmet need, and we are excited to
advance the field especially for individuals whose lives have been
severely disrupted by the disease by approving two cell-based gene
therapies today," said Dr. Nicole Verdun, director of the Office of
Therapeutic Products within the FDA's Center for Biologics Evaluation
and Research, in statement.

"Gene therapy holds the promise of delivering more targeted and
effective treatments, especially for individuals with rare diseases
where the current treatment options are limited."

"I'm elated, excited, in awe," Jennifer Doudna
[[link removed]] of the
University of California, Berkeley, who helped discover the
gene-editing technique called CRISPR
[[link removed]] that is
used in one of the sickle cell treatments, told NPR in an interview.
"It's an exciting day and the beginning of a new day in medicine."

For the CRISPR treatment, which was developed by Vertex
Pharmaceuticals [[link removed]] and CRISPR Therapeutics
[[link removed]], both in Boston, doctors remove cells from
each patient's bone marrow, edit a gene with CRISPR and then infuse
billions of the modified cells back into patients.

The edited cells produce a form of hemoglobin known as fetal
hemoglobin, restoring normal function of red blood cells. While not a
cure for the disease, the hope is the therapy, brand name Casgevy, is
designed to be a one-time treatment that will alleviate symptoms for a
lifetime.

In data presented to the FDA
[[link removed]], the treatment resolved
the severe pain crises for at least 18 months for 29 of the subjects
— 96.7%. The treatment has produced similar results for patients
suffering from a related condition known as beta thalassemia.
[[link removed]]

The FDA approved another gene therapy called Lyfgenia, developed
by bluebird bio inc [[link removed]]. of Somerville,
Mass., that doesn't use CRISPR to treat sickle cell disease. Instead,
Lyfgenia uses a more conventional form of gene therapy that uses a
virus to ferry a gene into cells.

Treatment comes with a high price

But the elation over the approvals was tempered by concerns the
breakthrough treatments may not be accessible to many sickle cell
patients.

They are both very expensive. Vertex said the wholesale price for
Casgevy will be $2.2 million. Bluebird set the wholesale price of
Lyfgenia at $3.1 million.

The treatments also require a complicated, arduous procedure that many
hospitals are not equipped to provide. Many patients may find
treatment too physically and logistically daunting.

"We have a lot more work to do" to make gene-editing treatments widely
available, Berkeley's Doudna says.

Gene-editing, which allows scientists to manipulate the basic building
blocks of life more easily than ever before, is being studied as a
treatment for illnesses ranging from rare genetic disorders like
muscular dystrophy to common ailments like cancer, heart disease,
diabetes, AIDS and Alzheimer's.

Sickle cell disease is caused by a genetic defect that produces an
abnormal form of the protein hemoglobin, which red blood cells need to
carry oxygen through the body. As a result, the red blood cells of
sickle cell patients become misshapen sickle-shaped cells that get
jammed inside blood vessels. That causes excruciating, unpredictable
attacks of pain and damages vital organs, cutting patients' lives
short.

Sickle cell disproportionately occurs among people of African, Middle
Eastern and Indian descent, affecting millions around the world and
about 100,000 in the U.S. Although a rare disease, sickle cell is one
of the most common genetic disorders.

Some patients can be cured by bone marrow transplants, but most can't
find a suitable donor. About 20,000 patients in the U.S. have the
severe form of the disease the CRISPR treatment would initially be
used to treat.

"I'm really excited," Dr. Lewis Hsu
[[link removed]], a pediatric
hematologist at the University of Illinois at Chicago who serves as
the chief medical officer at the Sickle Cell Association of America,
told NPR in an interview. "This is something that we've been waiting
for in the sickle cell community for basically 70 years. This is a
very big deal."

A life transformed

The approval of the CRISPR gene-editing treatment was also welcomed
by Victoria Gray
[[link removed]],
a Forest, Miss., sickle cell patient who was the first person to
receive it in the U.S. NPR has had exclusive access to chronicle her
experience since she was treated in 2019.

"I'm ecstatic. It's a blessing that they approved this therapy. It's a
new beginning for people with sickle cell disease," Gray told NPR in
her latest interview with NPR.

Like many sickle cell patients, Gray was forced throughout her life to
repeatedly rush to the hospital for powerful pain drugs and blood
transfusions. She was unable to finish school, hold jobs or often even
care for herself or her children.

"This has turned my life around. It gave me a new lease on life. It's
transformed my life more than I could have ever imagined," Gray says.

Since the treatment, Gray's has been much more energetic and able to
start working full time selling cosmetics at Walmart and spend more
time with her four children, who are now teenagers.

"Since I received the CRISPR treatment, I've had a new beginning. Most
of all, I no longer have to fear dying and leaving my kids behind
without a mother," Gray says. "My life is limitless now. I'm full of
energy. I don't have pain. It's a real transformation."

Technical complexity and lengthy hospitalization

Aside from the price for the treatments, another concern is the
procedures are long, difficult and complex, requiring multiple trips
to a hospital for testing, a grueling and potentially dangerous bone
marrow transplant, and lengthy hospitalization. Those factors may put
the treatment out of reach for those who need it most in the U.S., as
well as in less affluent countries where the disease is most common.

"I have a mixed reaction," says Melissa Creary
[[link removed]], an
assistant professor at the University of Michigan who studies sickle
cell at the University of Michigan School of Public Health and has the
disease herself. "I am excited about the promise that this technology
has for those living with sickle cell disease. But as this technology
comes to market it's going to be really interesting to see the ways in
which profit overtake social justice."

Many of the countries where most sickle cells patients live don't have
enough sophisticated medical centers to provide the complicated
treatment. Even in the U.S., the treatment may not be widely
available, making it difficult to access.

"Rural patients will likely to be at a disadvantage. And there might
be whole states or regions with no gene-therapy options," Hsu says.

More gene-editing treatments are in the works

Doudna heads a center at Berkeley to try to make gene-editing
treatments simpler and therefore more accessible. The National
Institutes of Health is also trying to address the problem.

The biotech companies say they are working with private and public
insurers to cover the procedure. Advocates note that the high price
could easily be offset by the savings of avoiding a lifetime of sickle
cell complications.

Another concern is whether sufficient research had been done to spot
"off-target" effects of the treatment — unintended editing errors
that missed their mark in the DNA and that could potentially cause
long-term health problems. The FDA is warning Lyfgenia, which uses the
more conventional form of gene therapy, may increase the risk for
blood cancer.

The companies are planning to follow all the patients treated in the
study for 15 years to see how long the benefits last, if the treatment
actually helps patients live longer and watch for any signs of
long-term complications.

CRISPR based treatments have also shown promise for treated a rare
liver condition known as amyloidosis
[[link removed]],
as well as an inherited form of high cholesterol known as familial
hypercholesterolemia
[[link removed]].

"It's only the beginning," CRISPR researcher Doudna says.

_ROB STEIN is a correspondent and senior editor on NPR's science
desk._

_An award-winning science journalist with more than 30 years of
experience, Stein mostly covers health and medicine. He tends to focus
on stories that illustrate the intersection of science, health,
politics, social trends, ethics, and federal science policy. He tracks
genetics, stem cells, cancer research, women's health issues, and
other science, medical, and health policy news._

_Before NPR, Stein worked at The Washington Post for 16 years, first
as the newspaper's science editor and then as a national health
reporter. Earlier in his career, Stein spent about four years as an
editor at NPR's science desk. Before that, he was a science reporter
for United Press International (UPI) in Boston and the science editor
of the international wire service in Washington._

_Stein frequently represents NPR, speaking at universities,
international meetings and other venues, including the University of
Cambridge in Britain, the World Conference of Science Journalists in
South Korea, and the Aspen Institute in Washington, DC._

_Stein's work has been honored by many organizations, including the
National Academy of Sciences, the American Association for the
Advancement of Science, the American Association for Cancer Research,
and the Association of Health Care Journalists. He was twice part of
NPR teams that won Peabody Awards._

_Stein is a graduate of the University of Massachusetts, Amherst. He
completed a journalism fellowship at the Harvard School of Public
Health, a program in science and religion at the University of
Cambridge, and a summer science writer's workshop at the Marine
Biological Laboratory in Woods Hole, Mass._

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__

COP28 AND THE NUCLEAR ENERGY NUMBERS RACKET
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By SHARON SQUASSONI
Bulletin of the Atomic Scientists
December 13, 2023

* Science
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* Medicine
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* CRISPR
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* biology
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* FDA
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