59 Participants Needed

CRISPR-Cas9 Gene Editing for Beta Thalassemia

Recruiting at 21 trial locations
MI
Overseen ByMedical Information
Age: < 65
Sex: Any
Trial Phase: Phase 2 & 3
Sponsor: Vertex Pharmaceuticals Incorporated
No Placebo GroupAll trial participants will receive the active study treatment (no placebo)
Prior Safety DataThis treatment has passed at least one previous human trial
Approved in 2 JurisdictionsThis treatment is already approved in other countries

What You Need to Know Before You Apply

What is the purpose of this trial?

This is a single-arm, open-label, multi-site, single-dose Phase 1/2/3 study in participans with transfusion-dependent β-thalassemia (TDT). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 Modified CD34+ Human Hematopoietic Stem and Progenitor Cells (hHSPCs) using CTX001.

Will I have to stop taking my current medications?

The trial information does not specify whether you need to stop taking your current medications. Please consult with the trial team for guidance.

Is CRISPR-Cas9 gene editing safe for treating beta thalassemia?

CRISPR-Cas9 gene editing has shown promise in treating beta thalassemia with no tumors found in mice and minimal unintended genetic changes in cells, suggesting it is generally safe in early studies.12345

How is the treatment CTX001 for beta thalassemia different from other treatments?

CTX001 is unique because it uses CRISPR-Cas9 gene editing to precisely correct genetic mutations in a patient's own stem cells, potentially offering a long-term cure without the need for donor stem cells or regular blood transfusions, which are common in traditional treatments.12367

What data supports the effectiveness of the treatment CTX001 for beta thalassemia?

Research shows that CRISPR/Cas9 gene editing, which is part of the CTX001 treatment, has been successful in correcting mutations in the beta-globin gene, leading to restored normal gene function in cells from beta thalassemia patients. This suggests that CTX001 could be an effective treatment for beta thalassemia by fixing the genetic issues causing the disease.12368

Are You a Good Fit for This Trial?

This trial is for individuals with transfusion-dependent β-thalassemia, which means they need regular blood transfusions due to their condition. They should have a history of significant blood transfusion needs and be suitable for an autologous stem cell transplant. People with certain genetic variations of thalassemia or active infections, low white blood cell or platelet counts can't participate.

Inclusion Criteria

I've had significant blood transfusions in the last 2 years.
I am considered a candidate for a stem cell transplant using my own cells.
I have been diagnosed with transfusion-dependent β-thalassemia.

Exclusion Criteria

White blood cell (WBC) count <3 × 10^9/L or platelet count <50 × 10^9/L not related to hypersplenism
I have a healthy, fully matched donor for my treatment.
I have had a stem cell transplant from a donor.
See 3 more

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Treatment

Participants receive a single infusion of CTX001 through a central venous catheter

1 day
1 visit (in-person)

Follow-up

Participants are monitored for safety and effectiveness after treatment

24 months
Regular visits (in-person and virtual) over 24 months

What Are the Treatments Tested in This Trial?

Interventions

  • CTX001
Trial Overview The study is testing CTX001, which involves modifying the patient's own stem cells using CRISPR-Cas9 technology to potentially treat β-thalassemia. It's a single-dose study looking at both safety and how well it works in improving the condition.
How Is the Trial Designed?
1Treatment groups
Experimental Treatment
Group I: CTX001Experimental Treatment1 Intervention

CTX001 is already approved in European Union, United States for the following indications:

🇪🇺
Approved in European Union as CTX001 for:
🇺🇸
Approved in United States as CTX001 for:

Find a Clinic Near You

Who Is Running the Clinical Trial?

Vertex Pharmaceuticals Incorporated

Lead Sponsor

Trials
267
Recruited
36,100+
Dr. David Altshuler profile image

Dr. David Altshuler

Vertex Pharmaceuticals Incorporated

Chief Medical Officer since 2020

MD, PhD

Dr. Reshma Kewalramani profile image

Dr. Reshma Kewalramani

Vertex Pharmaceuticals Incorporated

Chief Executive Officer since 2020

MD, trained in internal medicine and nephrology

CRISPR Therapeutics

Industry Sponsor

Trials
7
Recruited
630+

Published Research Related to This Trial

The DARE (disruption of aberrant regulatory elements) technique effectively corrected β-globin expression in IVSI-110(G>A) β-thalassemia transgenic cells, showing potential for targeted repair of various disease-causing mutations.
This method demonstrated high efficiency and flexibility, suggesting it could be applied to at least 14 known thalassemia mutations and other inherited diseases, paving the way for personalized therapies.
The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.Patsali, P., Mussolino, C., Ladas, P., et al.[2020]
A novel CRISPR/Cas9-based gene-editing strategy targeting the HBB gene for beta-thalassemia showed approximately 50% efficiency in co-transfecting CRISPR and donor template plasmids in HEK293 cells, with a subsequent HDR efficiency of about 37.5%.
The study successfully isolated HDR-positive cells using a combination of selection markers and negative selection methods, indicating that this approach could be a promising avenue for developing effective gene therapies for beta-thalassemia.
Design Principles of a Novel Construct for HBB Gene-Editing and Investigation of Its Gene-Targeting Efficiency in HEK293 Cells.Lotfi, M., Ashouri, A., Mojarrad, M., et al.[2023]
CRISPR/Cas9 successfully corrected β-thalassemia mutations in patient-specific induced pluripotent stem cells (iPSCs), promoting the development of healthy hematopoietic stem cells (HSCs) in laboratory mice.
The corrected HSCs expressed normal β-globin (HBB) without causing tumors in various organs after implantation, indicating a safe and effective approach for personalized treatment of β-thalassemia.
The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human β-thalassemia in Mice.Ou, Z., Niu, X., He, W., et al.[2018]

Citations

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements. [2020]
Design Principles of a Novel Construct for HBB Gene-Editing and Investigation of Its Gene-Targeting Efficiency in HEK293 Cells. [2023]
The Combination of CRISPR/Cas9 and iPSC Technologies in the Gene Therapy of Human β-thalassemia in Mice. [2018]
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia. [2023]
Editing aberrant splice sites efficiently restores β-globin expression in β-thalassemia. [2022]
Correction of β-thalassemia by CRISPR/Cas9 editing of the α-globin locus in human hematopoietic stem cells. [2021]
One-Step Biallelic and Scarless Correction of a β-Thalassemia Mutation in Patient-Specific iPSCs without Drug Selection. [2020]
Correction of Hemoglobin E/Beta-Thalassemia Patient-Derived iPSCs Using CRISPR/Cas9. [2022]
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