CRISPR/Cas9-Based Clinical Trials Commence Targeting Cancer, Blood Disease & Vision

CRISPR/Cas9-Based Clinical Trials Commence Targeting Cancer, Blood Disease & Vision

Gene editing is here, manifested by a batch of clinical trials from cancer and blood disorders to blindness. TrialSite News summarizes clinical trials ongoing utilizing this powerfully promising yet risky breakthrough.

Tina Hesman Saey of ScienceNews recently covered the status of CRISPR-based research as the first clinical trials involving the gene editing technology commence. The goals are bold and signify, if successful, a major leap in medicine—who would have thought even just a decade ago that we would see clinical trials where an engineered gene would be injected into the eyes of a blind person so that it will essentially remove a blindness mutation so that the patient could see for the first time—wild!

CRISPR has been around since 2012 now and its’ gene editing promise can be applied to over 6,000 known genetic diseases.  Ms. Saey writes a nice article that we recommend you follow the link to the source and read. You can also read our summary of CRISPR trials below.


University of Pennsylvania researchers are conducting a CRISPR/Cas9 therapy for multiple myeloma and sarcoma. The study protocol directs engineered T cells programmed with CRISPR to go after and destroy cancer cells. Collaborators include Parker Institute for Cancer Immunotherapy and Tmunity Therapeutics. The Principal Investigator is Edward Stadtmauer, MD. A similar clinical trial is occurring in China, reports Ms. Hesman Saey, sponsored by the Chinese PLA General Hospital.

Blood Disorders

CRISPR-based trials are now underway targeting sickle-cell disease and beta thalassemia. The result of genetic defects, these therapies are designed to copy a natural fix. Vertex and CRISPR Therapeutics, a company in Cambridge, MASS are testing whether CRISPR/Cas9 cuts can copy a genetic variant keeping fetal hemoglobin turned off for life and therefore relieve symptoms for those with the Sickle-Cell blood disorder. Both companies announced back in February that one person was treated for beta thalassemia. And another patient had received the same general CRISPR/Cas9 therapy for sickle-cell disease. The sickle-cell study is a single-arm, open-label, multi-site, single-dose Phase I/2 study for up to 12 participants ages 18 to 35 years old with severe sickle cell disease. The study team is evaluating the safety and efficacy of autologous CRISPR-Cas9 modified CF34+ Human Hematopoietic Stem and Progenitor Cells. Research Sites for the Sickle-Cell CRISPR study include Columbia University, Children’s Hospital of Philadelphia, St. Jude Children’s Research Hospital, Children’s Hospital at TriStar Centennial Medical Center/Sarah Cannon Center for Blood Cancers, Methodist Children’s Hospital/Texas Transplant Institute, Hospital Universitaire des Enfants Reine Fabiol (Belgium), The Hospital for Sick Children (Canada), Regensburg University Hospital (Germany) and IRCCS (Italy).

The Vertex-sponsored beta thalassemia study will include 45 participants and include Hospital for Sick Children, BC Children’s Hospital (Vancouver, Canada), University Hospital Regensburg (Germany), University Hospital Tübingen (Germany), Imperial College Healthcare (UK).


A clinical trial has commenced to use CRISPR/Cas9 to treat Leber congenital amaurosis 10, a disorder caused by a mutation in the CEP290 gene that leads to a nonfunctional protein. When the protein fails to work, light-gathering photoreceptors fail to work due to cellular death in the retina—blindness results. Industry sponsors Editas and Allergan launched a clinical trial for a blindness gene-editing trial in July 2019. In this trial, two guide RNAs lead Cas9 to make two cuts that will snip out the defective piece of DNA.

The study sponsors will evaluate the safety, tolerability and efficacy of single escalating doses of AGN-151587 (EDIT-101) administered via subretinal injection in participants with LCA10 caused by a homozygous or compound heterozygous mutation involving c.2991+1655A>G in intron 26 of the CEP290 gene (“LCA10-IVS26”). The first patients will be nearly blind adults. ScienceNews reported small amounts of the CRISPR editor will be injected under the retina to test for safety. It is hoped that editing as few as 10% of the retinal cells may help restore some sign. It was reported in preclinical animal research that up to 60% of cells in mice and almost 28% in monkeys helped restore some sight, scientists reported in Nature Medicine February 2019.

Clinical research sites for this Leber congenital amaurosis 10 study include Bascom Palmer Eye Institute (Florida); Massachusetts Eye and Ear Infirmary (Boston, MA); W.K Kellogg Eye Center (Michigan); and Casey Eye Institute of OHSU (Oregon).