Breaking News
August 18, 2018 - Microscopic insect odour detecting mechanisms discovered
August 18, 2018 - Researchers develop new approach to study how tuberculosis infects people
August 18, 2018 - FDA Approves Kalydeco (ivacaftor) for Cystic Fibrosis in Children Ages 12 to
August 18, 2018 - An ion channel differentiates newborn and mature neurons in the adult brain
August 18, 2018 - Socio-economic position associated with pregnant women’s exposure to environmental hazards
August 18, 2018 - Voters to settle dispute over ambulance employee break times
August 18, 2018 - AGA urges policymakers and stakeholders to improve affordability of drugs
August 18, 2018 - Increasing dietary protein may lower risk of diabetes in people with NAFLD
August 18, 2018 - New HIV therapy suppresses viral replication and increases immune cells in drug-resistant patients
August 18, 2018 - Broad Genetic Testing for NSCLC May Not Improve Survival
August 18, 2018 - Discovery opens door for synthetic opioids with less addictive qualities
August 18, 2018 - Transgenic rice plant extracts could help stop the spread of HIV
August 18, 2018 - Hologic’s Cynosure division partners with Porter Instrument to distribute nitrous oxide and oxygen system
August 18, 2018 - Two thyroid medications recalled by FDA
August 18, 2018 - Forecast Sees Abnormal Heat Worldwide Through 2022
August 18, 2018 - Childhood absence epilepsy – Genetics Home Reference
August 18, 2018 - Fearing hard Brexit, UK drugmakers stockpile to protect lives
August 18, 2018 - Discovery may help broaden the scope of defenses against HPV
August 18, 2018 - When they start thinking green, they see green
August 18, 2018 - Scientists introduce microfluidics-based chip for manipulation and analysis of single cells
August 18, 2018 - Researchers design new way to grow nose cells for treating spinal cord injuries
August 18, 2018 - New light shed on relationship between calorie-burning fat and muscle function
August 18, 2018 - Surgery Saturday Instagram series takes you inside Stanford’s OR
August 18, 2018 - Researchers uncover surprising new role for inhibition in the cerebellum
August 18, 2018 - Children have better nutrition when they live near forests, global study shows
August 18, 2018 - OHSU professor conducts clinical trial with artificial pancreas using Xeris’ liquid glucagon
August 18, 2018 - HSS takes young patients with physical challenges on a surfing trip
August 18, 2018 - Study shows electronic health records leave doctors and patients unsatisfied
August 18, 2018 - Study uncovers mechanism that affects multiplication of dengue virus lineage
August 18, 2018 - Theravance Biopharma Reports Positive Top-Line Four-Week Data from Phase 2 Trial of TD-9855 for the Treatment of Symptomatic Neurogenic Orthostatic Hypotension
August 18, 2018 - Animations prove effective in accurately measuring pain
August 18, 2018 - Three faculty members appointed to endowed positions | News Center
August 18, 2018 - New technique detects, measures, analyzes unevenly charged biomolecules
August 18, 2018 - Brief exposures to stressors can be beneficial to cells, shows study
August 18, 2018 - UTHealth-led survey shows much work remains to increase safety of e-health records
August 18, 2018 - Researchers use super-resolution microscope to unravel secrets of deadly Nipah virus
August 18, 2018 - Scientists identify pathways that reveal insights into mechanism of lung cancer etiology
August 18, 2018 - FDA approves marketing of brainsway deep transcranial magnetic stimulation system for OCD
August 17, 2018 - OUHSC gets $20 million grant to advance research and patient care for Oklahomans
August 17, 2018 - Sperm morphology differs depending on qualities of male bird
August 17, 2018 - Texas A&M researchers develop clay-based platform to grow blood vessels
August 17, 2018 - FDA Approves Expanded Indication for Orkambi (lumacaftor/ivacaftor) in Children Ages 2-5 Years
August 17, 2018 - Caring for Concussions | NIH News in Health
August 17, 2018 - Team explores diabetes drug’s ability to treat RSV infection
August 17, 2018 - New imaging technique can spot tuberculosis infection in an hour | News Center
August 17, 2018 - PolyU researchers design new self-fitting scaffold to induce bone regeneration
August 17, 2018 - CartiHeal and LSU Health successfully enroll first two patients in Agili-C IDE pivotal study
August 17, 2018 - Less-invasive options are slowing disease progression in glaucoma patients
August 17, 2018 - Researchers discover new promising target point for cancer and diabetes therapies
August 17, 2018 - Podcast: KHN’s ‘What the Health?’ See you in court!
August 17, 2018 - New mobile phone application enables early detection of cerebral ictus
August 17, 2018 - UK’s leading sight loss charity invites applications from brightest minds in ophthalmic research
August 17, 2018 - Alternative devices can help when autoinjectors are unavailable
August 17, 2018 - Researchers produce artificial placenta model that closely resembles natural organ
August 17, 2018 - Study offers possibility of squelching a focal epilepsy seizure before symptoms appear
August 17, 2018 - FDA Alert: Temporary Total Artificial Heart Companion 2 Driver System by SynCardia Systems: Letter to Health Care Providers
August 17, 2018 - New statewide program in North Dakota aims to stem opioid misuse
August 17, 2018 - Researchers discover why sepsis from a staph infection causes organ failure
August 17, 2018 - Stony Brook University’s new medical students start a transformative journey
August 17, 2018 - Revealed: The molecular mechanism underlying hypertrophic cardiomyopathy | News Center
August 17, 2018 - New modeling studies highlight urgent need for effective drug policy reforms to prevent HIV
August 17, 2018 - Research explores relationship between personal history of infectious fever and cancer risk
August 17, 2018 - Study finds rise in cases of progressive massive fibrosis among U.S. coal miners
August 17, 2018 - NEDBELS project examines impact of neurodiversity concept on legal systems
August 17, 2018 - Seeking solutions to treat scleroderma
August 17, 2018 - Statins may improve conditions of people with rare lung disease
August 17, 2018 - Study finds why some people with brain markers of Alzheimer’s never develop dementia
August 17, 2018 - Life Biosciences contributes $100,000 to fund its biomedical innovation course on aging
August 17, 2018 - Researchers develop a set of health outcome measures for children with complex medical situations
August 17, 2018 - Many Americans Not Being Assessed for Depression
August 17, 2018 - Scientists report setbacks in quest for AIDS cure
August 17, 2018 - Christopher Gardner busts myths about milk | News Center
August 17, 2018 - Bacterial activity in child’s mouth may serve as biomarkers for autism spectrum disorder
August 17, 2018 - Scripps Research scientists uncover new approach for treating thrombocytopenia
August 17, 2018 - Mathematical model shows the influence of human behavior on spread of infectious diseases
August 17, 2018 - Valley Hospital achieves Magnet recognition for fourth consecutive time
August 17, 2018 - Researchers describe link between poor oocyte development and oxidative stress in obese mice
August 17, 2018 - Hospitals battle for control over fast-growing heart-valve procedure
August 17, 2018 - AHA: Home-Delivered Meals Keep Heart Failure Patients Out of Hospital
August 17, 2018 - In Southern Mozambique, only half of people diagnosed with HIV enroll in medical care
Gene Therapy May Be Cure for Some With Rare Blood Disorder

Gene Therapy May Be Cure for Some With Rare Blood Disorder

image_pdfDownload PDFimage_print

WEDNESDAY, April 18, 2018 — Wanda Sihanath didn’t like the fact that her inherited blood disorder would not allow her to travel far from Chicago to attend college, but what could she do?

Without regular transfusions and blood testing, the beta-thalassemia she inherited from her parents could eventually cause her to become dangerously anemic.

“I wasn’t happy that I was adapting my college plans to my health care,” said Sihanath. She wanted to be free to go where she pleased, unshackled by her disorder.

Thanks to a revolutionary new genetic therapy, Sihanath hasn’t needed a blood transfusion for four years. She’s now 22 and a senior at Arizona State University studying biomedical engineering.

She is one of 15 out of 22 patients who became independent of transfusions after receiving the therapy, which replaced a defective gene in the stem cells of her bone marrow. Early results of the clinical trial are published in the April 19 issue of the New England Journal of Medicine.

“They have not required blood products of any kind for over a year, and for some it’s over three years,” said lead researcher Dr. Alexis Thompson, head of hematology and chair of childhood cancer and blood disorders at the Ann and Robert H. Lurie Children’s Hospital of Chicago.

Thalassemia is a group of inherited blood disorders that affect the production of hemoglobin, the protein in red blood cells that transports oxygen throughout the body.

Hemoglobin is made of two proteins, alpha globin and beta globin. In beta-thalassemia, genetic defects affect the production of the beta globin protein, reducing levels of hemoglobin in the blood.

There are an estimated 288,000 cases of beta-thalassemia across the world, making it one of the most common genetic diseases, according to an editorial accompanying the study. In the United States and the European Union, an estimated 15,000 people have the disorder and approximately 1,500 infants are born each year with it.

Patients with beta-thalassemia typically must begin receiving regular blood transfusions as an infant, so they don’t become anemic, Thompson said. Most will remain dependent on blood transfusions for the rest of their life.

Beta-thalassemia can be cured through a bone marrow transplant from a brother or sister, but that’s not an option for most, Thompson said.

“Unfortunately, the majority of individuals with thalassemia will not have a suitable matched sibling,” Thompson said. “Because of the lack of availability of appropriate donors, there has been a need for alternative treatments for thalassemia.”

In the experimental gene therapy, a person becomes his or her own donor of bone marrow stem cells. Medicines prompt the stem cells that create blood to temporarily circulate in the patient’s bloodstream, from which doctors gather and refine the cells, Thompson said.

Those stem cells are then exposed to a virus carrying the normal version of the beta globin gene, Thompson said. The cells adopt the normal gene, allowing them to produce healthy amounts of hemoglobin.

In the meantime, patients receive chemotherapy to kill off the defective bone marrow cells in their bodies. Once that’s done, the new cells are introduced via an IV drip into their veins, Thompson said.

“Because these are stem cells, they know where they really belong is the bone marrow,” Thompson said. “Even putting them into a vein, the cells know to travel to the bone marrow. Once they’re in the marrow, they settle in and begin dividing.”

Two-thirds of the patients who underwent this one-time treatment wound up with healthy levels of hemoglobin and have not needed transfusions, Thompson said.

“Of the ones that did not become independent, there was an almost 70 percent reduction in the volume and frequency of transfusion,” Thompson said. “There was clinical benefit in essentially all participants, with the majority of participants becoming transfusion-independent.”

Even better, the procedure did not cause any side effects.

There had been some concern that the virus would not act as anticipated, and might turn on cancer genes to trigger the development of leukemia in patients, explained Dr. Christopher Walsh, an associate professor of hematology and medical oncology at the Icahn School of Medicine at Mount Sinai in New York City.

“They don’t see that in this study, and the patients were studied for many years here, so that’s a good thing,” said Walsh, who wasn’t involved with the research.

Researchers will continue to track the patients for 15 years, to make sure no long-term health problems crop up, Thompson said.

The team continues to tweak the protocol to improve the ability of the virus to transfer the normal gene into patients’ stem cells, Thompson said. A larger phase 3 clinical trial is already underway.

Researchers also have been granted federal approval to test the procedure in children younger than 12, Thompson added.

“It’s been very gratifying to see patients who have really been able to thrive and to make plans and envision being able to accomplish so much, no longer dependent on transfusions,” Thompson said.

Sihanath agreed, saying she appreciates that she might one day decide to study abroad without worrying about her health care.

“Just being able to not stress about that has been nice,” she said.

More information

The American Academy of Family Physicians has more about thalassemia.

© 2018 HealthDay. All rights reserved.

Posted: April 2018

Tagged with:

About author

Related Articles