Nashville doctor performs first successful gene editing procedure on Sickle Cell Anemia patient

Frangoul and Victoria 1[12927].jpg
Posted at 5:43 PM, Dec 22, 2020
and last updated 2020-12-22 19:20:47-05

NASHVILLE, Tenn. (WTVF) — A new treatment for Sickle Cell Anemia, using the power of gene editing, was successfully completed and is now being studied at a Nashville hospital.

"It is a very novel technology by using gene editing called CRISPR Cas9," said Dr. Haydar Frangoul, the Medical Director of Pediatric Hematology at TriStar Centennial.

Maybe the easiest way to explain how the procedure works is to consider your DNA like a self-help book with thousands of pages. If a word is misspelled, it could ruin the instructions. Dr. Frangoul is looking to change just one word in that book, in order to successfully complete gene editing.

"Our technology uses an RNA that guides our CRISPR Cas9 molecule to alter that BCL11A gene and turns it off, and tells the cell to make a lot of fetal hemoglobin," said Dr. Frangoul.

In other words, Dr. Frangoul will take out a particular gene and edit it in the lab to instruct the body to produce a healthier version of a blood cell.

In order to insert those edited genes, doctors rely on a therapy you probably know for fighting cancer -- chemotherapy. "After they are gene edited, we have to use chemotherapy to remove the cells that make sickle cell disease in the patient before replacing them with the gene edited cells," he explained.

All of this was just a theory, until Dr. Frangoul was given approval to actually test it out on a patient. The very first was Victoria Gray. "When we told her about this new technology and said look -- nobody has ever done it before, nobody has tried it, we don’t know if it’s going to work, we don’t know the long term side effects of it. And when we discussed it with her she said sign me up," said Dr. Frangoul.

Gray began the treatment in early 2019 and it was completed by July 2019. Now a year and a half later, her Sickle Cell Anemia has dramatically reduced and she's getting to do things she assumed were impossible.

"The thing that made me the happiest is to see Victoria say she can now go and attend her children’s sporting activities which she could not do before because she was in pain all the time," said Dr. Frangoul.

This same technology may be able to treat other genetic disorders down the road. "We are very proud and very happy to be part of this -- really a breakthrough in medicine that we are doing here in Nashville," he said.

It may be a few years before this treatment for Sickle Cell Anemia gets approved for widespread use, but in the meantime, if you have Sickle Cell Anemia and want to participate in TriStar Centennial's clinical trial, they are still accepting patients.