Bağımsız Güncel Son Dakika Haber Sitesi

Pioneering Gene Therapy Freed Her of Sickle Cell. Is a Cure at Hand?

MESA, Ariz. — Helen Obando, 18 and soon to be a high school senior, nibbled french fries at a cafe and chatted about her future. Dressed in a …

Pioneering Gene Therapy Freed Her of Sickle Cell. Is a Cure at Hand?

MESA, Ariz. — Helen Obando, 18 and soon to be a high school senior, nibbled french fries at a cafe and chatted about her future. Dressed in a halter top and shorts, her toenails painted turquoise, she described her plans to enroll in community college, teach hip-hop dance and become a trauma nurse someday.

For most of her life, such modest dreams would have been unattainable. Helen was born with sickle cell disease. Since babyhood, she had experienced episodes of searing pain, hospitalization and organ damage, and would have been expected to die in her 40s.

But in 2019 she became the first American teenager with sickle cell to be declared free of the disease six months after undergoing an experimental gene therapy meant to cure her. Her symptoms have vanished. She assures teenagers she met at a camp for children with sickle cell: “One day they can have what I had.”

Such therapies are years off unless the federal government finds a way to speed progress.

This is a time of great promise for Americans with the disease, who are mostly Black. In recent years, clinical trials of three gene therapies for sickle cell have produced astonishing results for a few dozen lucky participants like Helen, raising hopes that a cure could be at hand for some, if not many, of the 100,000 people in the United States who have the disease. And in the midst of a pandemic that has laid bare profound racial inequities in health care, President Biden has pledged to combat them.

But the hope is shadowed by a legacy of underinvestment in treatments for sickle cell compared with diseases that mostly afflict white people, researchers have shown. Only four medications have been approved for the disease — and even they are often not used.

As inspiring as the early gene therapy results have been, the pace of progress has been slowed by the same factor that could greatly limit the treatments’ wide availability if and when they come to market: their sheer expense, with an expected price tag of $1 million to $2 million per patient.

Dr. Francis Collins, the director of the National Institutes of Health and a geneticist who has long pushed for more research into sickle cell, an inherited disease, said in an interview that he had been in “high level talks” with officials at the Centers for Medicaid and Medicare Services for two years about covering the cost of experimental sickle cell therapies for patients in clinical trials, which would greatly speed the process. He noted that the price of a potentially curative one-time treatment would be significantly less than the lifetime cost of caring for people with the disease.

The federal government has paid such costs before for bone-marrow transplants for sickle cell, for example, and amyloid PET brain scans for Alzheimer’s disease. But, Dr. Collins said, the progress of his talks with health officials slowed with the change of administrations from Trump to Biden; the appointment of a new director for the Centers for Medicaid and Medicare Services, Dr. Chiquita Brooks-LaSure, only in May; and the overwhelming focus on the pandemic. Dr. Collins said he would meet with Dr. Brooks-LaSure and her team in October to discuss his proposal.

“This is an opportunity to save lives and save suffering,” Dr. Collins said.

“A lot of other diseases have gotten way more attention,” he said, a situation he attributed in large part to systemic racism. With the excitement over gene therapy, Dr. Collins added, “we might make up for decades of neglect.”

The clinical trials, run by Bluebird Bio, Boston Children’s Hospital and Vertex Therapeutics, have changed the lives of the lucky patients like Helen who got them. Almost all the few dozen patients in the trials who passed the six-month marker since their treatments ended have had stunning results like hers.

“It’s an exciting time for sickle cell,” said Dr. Erica Esrick, a hematologist at Boston Children’s Hospital who led the clinical trail Helen participated in. “We’re enthusiastic. We’re optimistic.”

Helen, with her parents, Bryon Obando, left, and Sheila Cintron, and Dr. Erica Esrick at the Dana-Farber Boston Children’s Cancer and Blood Disorders Center in 2019.Credit…Hilary Swift for The New York Times

Researchers will follow these patients for 15 years to see if there are long-term complications, or if they remain free of sickle cell and can be considered truly cured.

One concern is that altering genes to rid them of sickle cell could introduce mutations that cause cancer down the road. Bluebird Bio, one of the companies testing a gene therapy for sickle cell — not Helen’s — recently paused its clinical trial after two patients developed cancer to study whether their illnesses were caused by the treatment. But further investigation exonerated the gene therapy, and the Food and Drug Administration allowed the studies to resume.

If and when a gene therapy is approved for sickle cell, it is not clear how many people would be able to get it. Nor is it clear who would pay for it.

The N.I.H. has formed two independent committees to study how much money could be saved over a lifetime of treatment for sickle cell if people with the disease could be cured with a costly gene therapy.

Dr. Scott Ramsey, a health economist and internist at the Fred Hutchinson Cancer Center, who heads one of the committees, said data from private insurers indicated the lifetime cost for a person with sickle cell is $2.7 million.

“I’m not aware of another chronic disease that even comes close,” to costing that much, he said.

He said he only recently got data for patients whose care is paid for through Medicaid and Medicare. His group is now analyzing it.

The ultimate goal is to find a simple, cheap way to cure sickle cell with a gene therapy that could be injected like a vaccine and used in developing countries with weak health care systems where complex, costly gene therapies would generally be unaffordable or impractical.

To reach that goal, the N.I.H. is working with the Gates Foundation, along with academic researchers, several small biotechs, and the large drug company Novartis, which has experience bringing drugs to market. But it may be a decade before the first people get injections, said Dr. J. Mike McCune, who heads the project for the foundation.

People with the disease want help now — and those who have gotten the gene therapies and their loved ones attest to the power of the treatments.

“Now she can have a life,” said Helen’s mother, Sheila Cintron. “She never did before.”

Helen with her parents on a visit to Boston for treatment in 2019.Credit…Hilary Swift for The New York Times

A Chance for a Cure

Like every sickle cell patient, Helen had a mutation in a gene that turned her red blood cells into rigid crescents instead of soft disks. Those misshapen cells got trapped in her blood vessels, injuring them, causing searing pain, and leading to lasting damage to tissues and organs.

Sickled cells blocked her spleen, which had to be removed. She had three life-threatening blockages of blood to the lungs. And her hip bones were permanently damaged by the disease.

Until now, the only cure was to give patients a bone-marrow transplant, which involved destroying their own marrow and replacing it with marrow from a donor so closely matched the body would not reject it.

Helen’s older sister had this treatment and was cured. Her healthy younger brother was the donor, but he was not a match for Helen.

Helen’s gene therapy took advantage of a discovery made decades ago. During fetal life, the production of red cells is directed by a gene that shuts down shortly after birth. Then an adult version of the gene takes over to direct red cell production. But that gene, the adult globin gene, is the one that can carry a sickle cell mutation.

Gene therapy flipped the switch backward, turning on her perfectly functional fetal gene and shutting down her mutated adult gene.

Researchers at Boston Children’s Hospital have now treated nine of 10 patients in their clinical trial and recently got a $30 million grant from the N.I.H. and the California Institute of Regenerative Medicine to treat 25 more patients at 10 medical centers.

The results so far, involving Helen and five other patients who got the same therapy, including a 7-year-old boy, were recently published in the New England Journal of Medicine. All were free of the disease.

Another paper, published along with the same journal, involved Vertex’s therapy that used the gene editing technique CRISPR to turn on the fetal hemoglobin gene and turn off the adult gene.

The treatment, of a 33-year-old woman with sickle cell, was a success. The company has now given its therapy to six more patients, all of whom have passed the three-month mark. Vertex says the treatment appears to have succeeded.

Bluebird Bio has a different strategy — using a disabled virus to deliver a copy of a functioning globin gene. The company reported that in its most recent study, 32 patients have been treated, 22 of whom are at least six months past their treatment and now have normal or near-normal hemoglobin levels and are free of the debilitating effects of sickle cell.

At Boston Children’s, more than 100 people inquired about getting themselves or their children into the four-year-long clinical trial for 25 patients ages 13 to 40. Most will be disappointed.

Helen Obando, 18, has a certificate commemorating her gene therapy. Now that she now longer has sickle cell she says she almost never thinks back to those terrible years of illness.Credit…Ash Ponders for The New York Times

Lives Transformed

Braxton Hubbard of Evanston, Ill., began his treatment with Bluebird’s therapy on July 6 at age 27 — the same age at which his older brother Brandon died of sickle cell. It began, as these treatments always do, with intense chemotherapy that destroyed his immune system.

In January, his doctor, Alexis Thompson of Northwestern University, told him he no longer had sickle cell disease.

It is strange, Mr. Hubbard said, to think he has a future.

“I am becoming more serious about life,” he said. “I didn’t think I would have a life.”

Helen, too, has been adjusting to life as a healthy person — an alteration her pediatric hematologist, Dr. Alexander Ngwube of Phoenix Children’s Hospital, has observed in sickle cell patients cured with bone-marrow transplants.

“Remember with sickle cell disease they are hospitalized a lot,” he said. “There are so many restrictions on their lives. They become depressed and when they are a little older they realize they have a life expectancy of 40 years. They start to think, ‘What is the point of doing anything?’”

When they are cured, he said, “it is almost like the world is theirs to play with.”

When Dr. Esrick gave Helen the good news a year ago, Helen lay silent on the exam table, not daring to talk.

Helen and her family have since moved from Lawrence, Mass., to Mesa, Ariz. I’ve followed her progress for more than two years. A lifetime of stoicism had taught her to keep her emotions to herself. Through a harrowing monthlong stay in the hospital for the gene therapy, she barely spoke to me. Even after it was completed, she tapped her mother on the arm and pointed when she wanted an ice cream cone as we walked through the Faneuil Hall Marketplace in Boston.

Freed of illness, she’s become far more outgoing. On summer weekends, she’s ventured to an arcade and a water park, and gone tubing.

“I’ve been trying to make new friends,” she said, “and get out into the world.”

Her passion is dancing. “I always wanted to be a dance instructor,” she said. Lasting damage to her hip from sickle cell makes it hard for her to dance but, she said, she should be able to teach.

She said she didn’t look back on her old life, but her mother, Ms. Cintron, relishes her daughter’s good fortune: “I keep thinking: We are so blessed.”

BU KONUYU SOSYAL MEDYA HESAPLARINDA PAYLAŞ
ZİYARETÇİ YORUMLARI

Henüz yorum yapılmamış. İlk yorumu aşağıdaki form aracılığıyla siz yapabilirsiniz.

BİR YORUM YAZ
bahçe dekorasyonu evde ek gelir eskişehir haber sondakika haberleri magazin haberleri seo sorgulama site analiz seo analiz google sıra bulucu backlink sorgulama sunucu tarama çekiliş çekiliş sitesi Who is html kod şifreleme seo hacklink hacklink satış hacklink panel wordpress ücretsiz tema wordpress free themes wordpress free tema wordpress themes wordpress hacklink al kilo verme wso shell php shell hacklink hacklink panel hızlı seo hacklink seo nedir wso shell instagram takipçi hilesi instagram takipçi hilesi
bahçe dekorasyonu evde ek gelir eskişehir haber sondakika haberleri magazin haberleri seo sorgulama site analiz seo analiz google sıra bulucu backlink sorgulama sunucu tarama çekiliş çekiliş sitesi Who is html kod şifreleme seo hacklink hacklink satış hacklink panel wordpress ücretsiz tema wordpress free themes wordpress free tema wordpress themes wordpress hacklink al kilo verme wso shell php shell hacklink hacklink panel hızlı seo hacklink seo nedir wso shell
hacklink satışbacklink satışsite analizseo analizseo araclarıbacklinkcialis jelcialis fiyatlifta 20 mgviagra satın alviagra 100 mg fiyatviagra siparişcialis 5 mg fiyatsertleştirici haplarlifta hapkayganlaştırıcıbayan azdırıcıpenis büyütücülergeciktiricilerereksiyon haplarıpenis sertleştirici haplarpenis büyütme ürünlerisertleştirici ereksiyon haplarısancaktepe escorttuzla escorteskisehir escortalpu escortizmir escortankara escortmersin escorteskişehir escortgaziantep escortsakarya escortkayseri escortantalya escortistanbul escortbursa escortadana escortadıyamanescortafyon escortağrı escortaksaray escortartvin escortaydın escortamasya escortardahan escortbalıkesir escortbartın escortbatman escortbayburt escortbilecik escortbingöl escortbitlis escortbolu escortburdur escortçanakkale escortçankırı escortçorum escortdenizli escortdiyarbakır escortdüzce escortedirne escortelazığ escorterzincan escorterzurum escortgiresun escortgümüşhane escorthatay escortığdır escortısparta escortmaraş escortkarabük escortkars escortkastamonu escortkilis escortkırıkkale escortkırklareli escortkırşehir escortkocaeli escortkonya escortkütahya escortmalatya escortmanisa escortmardin escortmuğla escortmuş escortnevşehir escortniğde escortordu escortosmaniye escortrize escortsamsun escorturfa escortsiirt escortuşak escortsinop escortşırnak escortsivas escorttekirdağ escorttokat escorttrabzon escorttunceli escortvan escortyozgat escortyalova escortzonguldak escortkıbrıs escortpendik escortesenyurt escortzeytinburnu escortküçükçekmece escortbeşiktaş escorttuzla escortbeykoz escortfatih escortsancaktepe escortarnavutköy escortbağcılar escortümraniye escortbeyoğlu escortüsküdar escortesenler escortmecidiyeköy escortsarıyer escortetiler escortlevent escortbebek escortgaziosmanpaşa escortkartal escortbaşakşehir escortşişli escorthalkalı escortbahçelievler escortortaköy escorteyüp escortbahçeşehir escortkağıthane escorttaksim escortçekmeköy escortsultançiftliği escortşaşkınbakkal escortbayrampaşa escortbeylikdüzü escortkadıköy escortataşehir escortbakırköy escortmerter escortataköy escortnişantaşı escortkozyatağı escortavcılar escortbüyükçekmece escortkurtköy escortiçerenköy escortküçükyalı escortbostancı escortşirinevler escorterenköy escortadana escortadıyaman escortafyon escortağrı escortaksaray escortamasya escortankara escortantalya escortardahan escortartvin escortaydın escortbalıkesir escortbartın escortbatman escortbayburt escortbilecik escortbingöl escortbitlis escortbolu escortburdur escortbursa escortçanakkale escortçankırı escortçorum escortdenizli escortdiyarbakir escortdüzce escortedirne escortelazığ escorterzincan escorterzurum escorteskişehir escortantep escortgiresun escortgümüşhane escorthakkari escorthatay escortığdır escortistanbul escortizmir escortkarabük escortkaraman escortkars escortkastamonu escortkütahya escortkayseri escortkıbrıs escortkilis escortkırıkkale escortkırklareli escortkırşehir escortkocaeli escortkonya escortmalatya escortmanisa escortmaraş escortmardin escortmersin escortmuğla escortmuş escortnevşehir escortniğde escortordu escortosmaniye escortrize escortsakarya escortsamsun escortsiirt escortsinop escortçorlu escortçerkezköy escortsivas escortmanisa escortizmir escorthatay escorterzurum escortbalikesir escorturfa escorttrabzon escorttekirdag escortsamsun escortsakarya escortordu escortmugla escortmersin escortmardin escortmaras escortmalatya escortkonya escortkocaeli escortkayseri escorteskisehir escortdiyarbakir escortdenizli escortbursa escortaydin escortantep escortankara escortadana escortkuvvet macunusertleştirici macunyapay kızlık zarısertleştirici ilaçlarserleşme haplarısertleştirici ereksiyon ilaçlarıereksiyon haplarıvajina daraltıcı kremeczane ereksiyon ilaçlarıpenis sertleştiricihacklinkwordpress ücretsiz temahacklink seowso shellwso shellwso shellhtml code encryptionhtml kod şifrelemeçekilişçekiliş sitesiserver scansunucu taramasite speed testsite hız testiseo newsgoogle newssite analysisseo analysisbacklink saleshacklink panelwordpress themeswordpress free temaWordpress Free Themeshtml kod şifrelemeWho isbacklink alsunucu taramapubg hile alTanıtım Yazısıseoseo sorgulaseo sorgulamaBest Gaming Monitorswireless earbudsshapermint bra reviewsBest Dog Crateraycon reviewsbest stethoscopeinstagram beğeni hilesiinstagram unfollowinstagram takipci satın alinstagram Followers Freeinsagram Free Followerssmm panelsmm panelinstagram takipci hilesiinstagram Followersinstagram free likesinstagram takipci hilesiinstagram takipci hilesiinstagram takipci hilesiinstagram takipci hilesibomonti escortgültepe escortbursa escortnisantasi escorttaksim escortkurtkoy escort bayanpendik escort bayantatto girlsoyun indirmakale programımeme küçültmeinstagram takipçi hilesibacklink albacklink satıştempobet1xbetrotabetjojobetsekabetbetisttempobet1xbetmobilbahisperabetmarsbahissuperbetincratosslotpaykwikastropaytempobetbetbooelexbetsultanbetbaymavicasinomaxirestbetsafirbetsafirbettempobetbetebet canliAntalya EscortKonyaaltı Escortdidim escortkadın newskadına özelworld newssex hikayeizmir escortmersin escortataşehir escortataşehir escortbeşiktaş escortesenler escortesenyurt escortfatih escortkadıköy escortkartal escortmaltepe escortpendik escortsarıyer escortpendik escortmaltepe escortkartal escortkadıköy escorttaksim escortsilivri escortşişli escortbağcılar escortbursa escortantalya escortankara escortadana escortgaziantep escortseo analysisistanbul escortviagra satın alviagra fiyatıdegrawso shellpendik escortc99 shelladana escortcanlı bahisadana eskortnevşehir escortbedava bonus veren bahis siteleribedava bonusdeneme bonusu30 tl bonus veren bahis sitelerihoşgeldin bonususex hikayeleriTürkçe Bahis Şirketlericanlı bahiskaçak iddaabahisbahis sitelerihoşgeldin bonusu veren bahis siteleriporno hikayeleristanbul escortc99 shellr57 shellbypass shellwebroot shellpendik escortvigrandedegra 100 mgorcafilcialis nedircialis 20 mg eczane fiyatıcialis fiyatcialis 20 mgcialis 100 mgviagra fiyatliftalifta 5 mghardciscialis eczanecialis 5 mg fiyatıcialis 100 mg fiyatcialis 5 mgviagra fiyatlarıviagra satışonline eczane viagraviagra eczanecialis 20 mgcialis 100 mgcialis hapcialis 20cialis eczanecialis satışcialis fiyatlarıcialis fiyatıviagra fiyatviagra fiyatlarıviagra eczaneviagra satın alpfizer viagra satışonline eczane viagrapfizer viagra satın alviagra siparişviagra sipariş hattıviagra fiyat 2021online viagra siparişviagra fiyat 2021 eczaneviagra fiyat eczaneankara escortAnkara escort kızlarEscort ankaraankara escort bayanSincan escortSincan escort bayanEryaman escortEscort eryamanEscort sincanEtlik escortEtlik escort bayanKızılay escortantalya escortantalya escort bayanantalya escort bayanantalya escortankara escort bayanKeçiören escort bayanEscort ankaraKızılay escort bayanEryaman escort bayanEscort antalyaÇankaya escortEscort antalyaKeçiören EscortÇankaya escort bayanankara escortAnkara rus escortankara escortankara escortkartal escortcialis 5 mgkamagra satın alkamagrakamagra jelkamagra jel siparişkamagra siparişkamagra fiyatkamagra jel fiyatıkamagra fiyatıkamagra 100mgkamagra 100mg fiyatsüper kamagrakamagra nedirpendik escortkurtkoy escorttuzla escortkayseri escortmozrankGamelooplogsuz shell indirlitespeed bypass shellindoxploit shellphp shellgoogle sıra buluculitespeed bypass shellbacklink sorgulamaeryaman escortistanbul escorthacklink satışbacklink satışhacklink panelhacklinkbingöl escorteskişehir escortkırklareli escortçekmeköy escortsultangazi escortbodrum escortkuşadası escortc99 shellc99 shelllifta 20 mgliftalifta 20lifta 20 mg nedirlifta nedir