New Atlas reports that the first CRISPR clinical trial outside of China has commenced.  Sponsored by Vertex and CRISPR Therapeutics, they have revealed the first patient received the experimental treatment for a rare blood disease. Rich Haridy reports that the sponsors are conducting tests on CTX001-a gene-editing therapy created to treat beta-thalassemia.

What is Beta-Thalassemia?

According to the National Institutes of Health (NIH), it is a blood disorder that reduces the production of hemoglobin. Hemoglobin is the iron-containing protein in red blood cells that carries oxygen to cells throughout the body.

In people with beta thalassemia, low levels of hemoglobin lead to a lack of oxygen in many parts of the body. Affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, fatigue, and more serious complications. People with beta thalassemia are at an increased risk of developing abnormal blood clots.

Beta thalassemia is classified into two types depending on the severity of symptoms: thalassemia major (also known as Cooley’s anemia) and thalassemia intermedia. Of the two types, thalassemia major is more severe.

What is the Frequency?

NIH reports that Beta thalassemia is a fairly common blood disorder worldwide. Thousands of infants with beta thalassemia are born each year. Beta thalassemia occurs most frequently in people from Mediterranean countries, North Africa, the Middle East, India, Central Asia, and Southeast Asia.

What is CTX001?

CTX001 is an investigational therapy developed by CRISPR Therapeutics. They developed it to treat inherited disorders of hemoglobin, such as sickle cell anemia and beta- thalassemia.

Who is CRISPR Therapeutics?

CRISPR Therapeutics AG, a gene editing company, focuses on developing transformative gene-based medicines for the treatment of serious human diseases using its regularly interspaced short palindromic repeats associated protein-9 (CRISPR/Cas9) gene-editing platform in Switzerland. Its lead product candidate is CTX001, which targets sickle cell disease and beta-thalassemia with an ex vivo approach whereby cells are harvested from a patient, treated with a CRISPR/Cas9-based therapeutic and reintroduced into the patient. The company is also developing CTX101, a donor-derived gene-edited allogeneic CAR-T therapy targeting CD19-positive malignancies. In addition, it is developing earlier stage allogeneic CAR-T programs targeting B-Cell maturation antigen and CD70; hemoglobinopathies to treat other diseases, including Hurler Syndrome and severe combined immunodeficiency disease; programs that are in preclinical development for indications, including glycogen storage disease Ia and hemophilia; and programs targeting diseases of organ systems outside the liver, such as Duchenne muscular dystrophy and cystic fibrosis. It has a collaboration agreements with Vertex Pharmaceuticals, Incorporated Vertex Pharmaceuticals (Europe) Limited to develop, manufacture, commercialize, sell, and use therapeutics; and StrideBio, Inc. to develop adeno-associated viral capsids with enhanced properties for in vivo gene editing programs. The company also has research collaboration agreements with Neon Therapeutics for developing neoantigen-based therapeutic vaccines and T cell therapies; Massachusetts General Hospital Cancer Center to develop T cell therapies for cancer; ViaCyte, Inc. for designing allogeneic cell therapies derived from gene edited human stem cells for use in the treatment of diabetes type 1, diabetes type 2, and insulin dependent diabetes; and ProBioGen AG to develop novel in vivo delivery modalities for CRISPR/Cas9. CRISPR Therapeutics AG is headquartered in Zug, Switzerland.


Founded in 2013, they have raised a total $127 million in four funding rounds according to start-up directory Crunchbase. They executed IPO in 2016, raising $56 million at initial share price of $15.  According to Yahoo Finance,  they generate  approximate $35.33 million on $117 in losses during the most recent 12-month period.  They have retained $487 million in the bank.  Undoubtedly their Vertex partnership was a smart move given the length, time, complexity and capital involved with all phases of clinical trials necessary for the hope of FDA approval.


Dr. Roger Novak

Emmanuelle Charpentier

Shaun Foy

What is the CRISPR Therapeutics and Vertex Relationship?

In December, 2017 the two companies announced their formal collaboration. They chartered a co-development and co-commercialization program centering on CTX001. This was a follow- on deal. Prior, they formed a co-discovery and development agreement. Vertex and CRISPR Therapeutics equally share research and development costs and profits worldwide.

Clinical Trial Description

As reported in, Verted and CRISPR Therapeutics are sponsoring this single-arm, open-label, multi-site, single-dose Phase 1/2 study in up to 12 subjects 18 to 35 years of age with transfusion-dependent β-thalassemia (TDT), non-β0/β0. The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) using CTX001. The sponsors’ target 45 patient participants. Estimated completion date is September 2022.

Primary outcome measures include:

  1. Proportion of subjects achieving transfusion reduction for at least 6 months (TR6) [ Time Frame: From 9 to 24 months post-CTX001 infusion ]
  2. Proportion of subjects with engraftment (absolute neutrophil count [ANC] ≥500/µL for three consecutive days) [ Time Frame: From 15 to 24 months post-CTX001 infusion ]
  3. Time to neutrophil and platelet engraftment [ Time Frame: Days post-infusion to engraftment ]
  4. Frequency and severity of collected adverse events (AEs) [ Time Frame: Signing of informed consent through Month 24 visit ]
  5. Incidence of transplant-related mortality (TRM) [ Time Frame: Baseline (pre-transfusion) to 100 days and 1-year post-CTX001 infusion ]
  6. All-cause mortality [ Time Frame: Signing of informed consent through Month 24 visit ]

See the link  for secondary outcome measure.

What Research Sites are Involved with the First CRISPR trial outside of China?

  • Hospital for Sick, Toronto, Canada
  • University Hospital Regensburg, Regensburg, Germany
  • University Hospital Tübingen, Tuebingen, Germany
  • Imperial College Healthcare, London, UK

How many CRISPR Trials in China?

TrialSite News produced original content summarizing CRISPR clinical research in humans in China.




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