Evaluation of Efficacy and Safety of a Single Dose of CTX001 in Participants With Transfusion-Dependent β-Thalassemia and Severe Sickle Cell Disease

NCT ID: NCT05477563

Last Updated: 2025-11-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

PHASE3

Total Enrollment

26 participants

Study Classification

INTERVENTIONAL

Study Start Date

2022-08-02

Study Completion Date

2027-06-09

Brief Summary

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This is a single-dose, open-label study in participants with transfusion-dependent β-thalassemia (TDT) or severe sickle cell disease (SCD). The study will evaluate the safety and efficacy of autologous CRISPR-Cas9 modified CD34+ human hematopoietic stem and progenitor cells (hHSPCs) using CTX001.

Detailed Description

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Conditions

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Beta-Thalassemia Thalassemia Hematologic Diseases Genetic Diseases, Inborn Hemoglobinopathies Sickle Cell Disease Sickle Cell Anemia

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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CTX001

CTX001 (autologous CD34+ hHSPCs modified with CRISPR-Cas9 at the erythroid lineage-specific enhancer of the BCL11A gene). Participants will receive a single infusion of CTX001 through a central venous catheter.

Group Type EXPERIMENTAL

CTX001

Intervention Type BIOLOGICAL

Administered by intravenous (IV) infusion following myeloablative conditioning with busulfan

Interventions

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CTX001

Administered by intravenous (IV) infusion following myeloablative conditioning with busulfan

Intervention Type BIOLOGICAL

Other Intervention Names

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Exagamglogene autotemcel Exa-cel

Eligibility Criteria

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Inclusion Criteria

* Participants with TDT and SCD:
* Eligible for autologous stem cell transplant as per investigator's judgment.
* Participants with TDT:
* Diagnosis of TDT as defined by:
* Documented homozygous β-thalassemia or compound heterozygous β-thalassemia including β-thalassemia/hemoglobin E (HbE). Participants can be enrolled based on historical data, but a confirmation of the genotype using the study central laboratory will be required before busulfan conditioning
* History of at least 100 milliliter (mL)/kilograms (kg)/year or 10 units/year of packed red blood cells (RBC) transfusions in the prior 2 years before signing the consent or the last rescreening for patients going through re-screening
* Participants with SCD:
* Diagnosis of severe SCD as defined by:
* Documented SCD genotypes
* History of at least two severe VOCs events per year for the previous two years prior to enrollment

Exclusion Criteria

* Participants with TDT and SCD:
* A willing and healthy 10/10 human leukocyte antigen (HLA)-matched related donor is available per investigator's judgement
* Prior hematopoietic stem cell transplant (HSCT)
* Clinically significant and active bacterial, viral, fungal, or parasitic infection as determined by the investigator
* Participants with TDT:
* Participants with associated α-thalassemia and \>1 alpha deletion, or alpha multiplications
* Participants with sickle cell β-thalassemia variant
* Participants with SCD:
* History of untreated moyamoya syndrome or presence of moyamoya syndrome at screening
Minimum Eligible Age

12 Years

Maximum Eligible Age

35 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Vertex Pharmaceuticals Incorporated

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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New York Presbyterian Hospital - Morgan Stanley Children's Hospital

New York, New York, United States

Site Status RECRUITING

Levine Children's Hospital - Hematology

Charlotte, North Carolina, United States

Site Status RECRUITING

TriStar Medical Group Children's Specialists - Pediatric Oncology

Nashville, Tennessee, United States

Site Status RECRUITING

University Hospital Dusseldorf - Department of Pediatric Oncology, Hematology and Clinical Immunology

Düsseldorf, , Germany

Site Status RECRUITING

IRCSS Ospedale Pediatrico Bambino Gesu - Dipartimento di Onco-Ematologia e Terapia Cellulare e Genica

Rome, , Italy

Site Status RECRUITING

King Faisal Specialist Hospital & Research Centre - Riyadh - Hematology

Al Mathar Ash Shamali, , Saudi Arabia

Site Status RECRUITING

Countries

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United States Germany Italy Saudi Arabia

Central Contacts

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Medical Information

Role: CONTACT

Phone: 6173416777

Email: [email protected]

Other Identifiers

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2024-514641-12-00

Identifier Type: OTHER

Identifier Source: secondary_id

VX21-CTX001-161

Identifier Type: -

Identifier Source: org_study_id