Upcoming Webinars Archived Webinars Training Vitals Host A Webinar About Get Updates Contact

Gene Therapy Could Be Effective Cure for Sickle Cell Disease



Researchers in France have now used gene therapy to treat a 13-year-old boy with the disease.

Share this!

March 3, 2017 | by Sarah Hand, M.Sc.

A patient in France with sickle cell disease has been successfully treated for the condition using gene therapy. If the therapy proves effective in larger clinical trials, it could offer relief from the painful symptoms of sickle cell disease for the 100,000 patients who suffer from the condition in the US alone.

“It could be a game changer,” said Dr. Deborah Gill at the University of Oxford. “The fact the team has a patient with real clinical benefit, and biological markers to prove it, is a very big deal.”

Sickle cell disease is caused by a mutation in the gene that encodes the beta-globin subunit of hemoglobin. This mutation changes the oxygen carrying capacity of hemoglobin, and the proteins form aggregates which change the shape of the red blood cells. These sickle-shaped cells then get stuck in blood vessels throughout the body.

Individuals with sickle cell disease are currently treated using blood transfusions. In some cases, a bone marrow transplant can be an effective treatment, however only 10 percent of patients find a suitable donor.

Researchers in France have now used gene therapy to treat a 13-year-old boy with the disease. These researchers collected bone marrow stem cells from the patient and used a viral vector to introduce genes encoding antisickling beta-globin into the cells.

About three months after these altered cells were transfused back into the patient, he began to produce a normal form of hemoglobin. The researchers published the results of this single case in The New England Journal of Medicine.

“The patient is now 15 years old and free of all previous medication,” said senior study author Dr. Marina Cavazzana, of the Necker Children’s Hospital in Paris. “He has been free of pain from blood vessel blockages, and has given up taking opioid painkillers.

“All the tests we performed on his blood show that he’s been cured, but more certainty can only come from long-term follow-up,” she continued. Cavazzana and her team have used this gene therapy technique to treat seven other sickle cell disease patients, all of whom are reportedly showing promising progress.

While the results suggest a possible new treatment for the disease, some are exercising caution when it comes to celebrating gene therapy as a cure. “We should be realistic in remembering that there are hundreds of thousands of sickle cell patients in less developed countries, and that the therapy is not easily exportable or adaptable to countries with less well-developed health systems,” said Dr. Stuart Orkin of Harvard Medical School.

Keywords: Gene Therapy, Sickle Cell Disease, Case Study


Share this with your colleagues!

Lavazza Acquires Controlling Stake in Canada’s Kicking Horse Coffee

May 26, 2017 - Italian coffee company Lavazza, has secured an 80 percent equity stake in Canadian organic and fair-trade coffee company Kicking Horse Coffee, in a deal worth CAD$215 million.

Featured In: Food News

FDA First: Keytruda Approved for Cancer Treatment Based on Biomarker Alone

May 25, 2017 - For the first time, the FDA has approved a cancer treatment for solid tumors based on the presence of a biomarker, as opposed to specifying a tissue of origin.

Featured In: Biotech News

One Year of Medically Assisted Dying in Canada

May 25, 2017 - In June of 2016, the federal government of Canada passed legislation to legalize medically assisted dying.

Featured In: Life Science News


Top 5 Most Impactful Tweets in Life Sciences During the Last Week


EU IVD Regulation: Top Five Changes for Medical Device Manufacturers to Consider

Thermal Processing Systems for the Food Industry: A Guide to Selecting Thermal Equipment and Technology

Rare Disease & Orphan Drug Development: Cost-Efficient Trial Design to Minimize Cash Burn

eTMF Workflows: Active eTMF to Improve the Quality of Clinical Trials

Copyright © 2016-2017 Honeycomb Worldwide Inc.