Gene Editing For Sickle Cell Disease

NCT ID: NCT06506461

Last Updated: 2025-11-14

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

PHASE1

Total Enrollment

25 participants

Study Classification

INTERVENTIONAL

Study Start Date

2025-03-21

Study Completion Date

2032-12-31

Brief Summary

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This study is being done to test the safety of a new treatment called gene editing in Sickle Cell Disease (SCD) patients and to see if a single dose of this genetically modified cellular product will increase the amount of a certain hemoglobin called fetal hemoglobin (HbF) and help reduce the symptoms of SCD.

Primary Objective

* To assess the safety of autologous infusion of clustered regularly interspaced palindromic repeats (CRISPR)/ CRISPR associated protein (Cas9)-edited CD34+ hematopoietic stem and progenitor cells (HSPCs) in patients with severe SCD.

Secondary Objective

* To assess the efficacy autologous infusion of CRISPR/Cas9 genome-edited CD34+ HSPCs into patients with severe SCD.

Detailed Description

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Participants will receive a daily subcutaneous (under the skin) dose of motixafortide for up to 3 consecutive days to mobilize their hematopoietic stem and progenitor cells (HSPCs) into peripheral blood. Participants who cannot tolerate motixafortide may receive a daily subcutaneous dose of plerixafor (Mozobil®) as an alternative for 3-5 consecutive days. About 2-4 hours after each dose of plerixafor/motixafortide is given, the collection of HSPCs will start via apheresis. The collected HSPCs will be sent to a lab to genetically modify them using CRISPR/Cas9.

In the lab, the researchers will take the stem cells and purify them. The stem cells will then be mixed with the CRISPR-Cas9 gRNA ribonucleoprotein (RNP) complex to change (edit) the genes in the cells and produce the new gene edited cellular product. This gene edited drug product will be frozen until ready for infusion.

Once the cellular product is ready, participants will be given Busulfan (a chemotherapy medicine) intravenously (IV) for 4 days. The thawed gene product will be given IV about 48 hours after the completion of the last dose of busulfan.

Participants will be followed for 3 years on this study. After the three years, participants will be followed for 12 more years on a long-term follow-up study.

Conditions

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Sickle Cell Disease

Keywords

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Plerixafor Autologous CD34+ cells Apheresis Conditioning Busulfan Gene Editing

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Patients with severe sickle cell disease (SCD)
Primary Study Purpose

TREATMENT

Blinding Strategy

NONE

Study Groups

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Autologous, genetically modified CD34+ HSPCs Treatment

All eligible participants receive intervention as described in the Detailed Description with the following: motixafortide, plerixafor, busulfan, and autologous, gene-modified CD34+ cells

Group Type EXPERIMENTAL

Plerixafor

Intervention Type DRUG

Given Subcutaneous (under the skin)

Busulfan

Intervention Type DRUG

Given Intravenous (IV)

Gene-modified CD34+ cells

Intervention Type BIOLOGICAL

Given Intravenous (IV)

Motixafortide

Intervention Type DRUG

Given Subcutaneous (under the skin)

Interventions

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Plerixafor

Given Subcutaneous (under the skin)

Intervention Type DRUG

Busulfan

Given Intravenous (IV)

Intervention Type DRUG

Gene-modified CD34+ cells

Given Intravenous (IV)

Intervention Type BIOLOGICAL

Motixafortide

Given Subcutaneous (under the skin)

Intervention Type DRUG

Other Intervention Names

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Mozobil® Myleran® Busulfex Aphexda

Eligibility Criteria

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Inclusion Criteria

* Age ≥18 years and ≤24.9 years.
* Patients with SCD (Hb SS, Hb SB0 and Hb SB+ genotype) who have experienced EITHER (a) 2 or more SCD-related vaso-occlusive events (acute pain events, acute chest syndrome, priapism and splenic sequestration) per year in the 2-year period before screening, OR (b) administration of regular red blood cell (RBC) transfusions (≥8 transfusions in the 12 months preceding enrollment) EXCEPT if the RBC transfusions are being administered for primary or secondary stroke prevention and, in the opinion of the treating hematologist, cannot be safely discontinued after infusion of the gene modified drug product.
* Failure, intolerance, or refusal of hydroxyurea therapy.
* Patients must be eligible for autologous stem cell transplant as per investigator's judgment.
* Females of childbearing potential (i.e., those who are post-menarchal with an intact uterus and at least 1 ovary, and those who are less than 1 year postmenopausal) must agree to use acceptable method(s) of contraception from start of mobilization through at least 6 months post-infusion.
* Males must agree to use effective contraception from start of mobilization through at least 6 months post-infusion.
* Patients should be willing to participate in an additional long-term follow-up study after completion of this trial.

Exclusion Criteria

* Availability of an human leukocyte antigen (HLA)-matched sibling who is willing and able to donate an appropriate graft for hematopoietic cell transplantation (HCT).
* Karnofsky or Lansky performance score \< 80.
* Pregnant, as confirmed by positive serum or urine pregnancy test within 14 days before enrollment (if female).
* Breastfeeding.
* Uncontrolled (undergoing appropriate treatment and with progression of clinical symptoms) or clinically significant bacterial, viral, or fungal infections within 1 month before enrollment.
* Patients with confirmed Hepatitis B or Hepatitis C infections.
* Patients with confirmed seropositivity or positive nucleic acid amplification test (NAAT) for human immunodeficiency virus (HIV) or human T-cell lymphotropic virus (HTLV).
* Patients with a history of stroke.
* Serum conjugated (direct) bilirubin \> 2× the upper limit of normal for age, or serum alanine transaminase (ALT) \> 3× the upper limit of normal for age as per the local laboratory. Participants with hyperbilirubinemia or elevated aspartate aminotransferase (AST) as the result of hyperhemolysis, or with a severe drop in hemoglobin post blood transfusion, are not excluded as long as these values downtrend and return to acceptable limits subsequently.
* Left ventricular shortening fraction \< 25% or ejection fraction \< 45% by echocardiogram.
* Estimated creatinine clearance less than 60 mL/min/1.73m\^2.
* Diffusion capacity of carbon monoxide (DLCO) \< 50% (adjusted for hemoglobin) OR baseline oxygen saturation \< 85% in patients unable to perform pulmonary function tests.
* Prior HCT or gene therapy.
* Known hepatic cirrhosis, bridging hepatic fibrosis, or active hepatitis. Appropriate ultrasound or magnetic resonance (MR) imaging may be used to define the presence and degree of cirrhosis. Liver biopsy may be performed at the discretion of the attending physician or principal investigator if there are concerns regarding the presence of severe hepatic fibrosis or cirrhosis such that participation in this trial will not be in the patient's best interest.
* Active known malignancy, myelodysplasia, abnormal cytogenetics, or immunodeficiency.
* Patients with history of a significant bleeding disorder.
* Cerebrovascular procedure within 6 months, including pial synangiosis for moyamoya.
* Patients with history of untreated moyamoya disease or presence of moyamoya disease at screening that in the opinion of the investigator puts the subjects at the risk of bleeding.
* Evidence of a pathogenic clonal variant in any candidate gene detected by a standard, licensed next-generation sequencing clinical assay for gene mutations associated hematological malignancies.
* Patients with history of intolerance, contraindication, or known sensitivity to plerixafor or motixafortide or busulfan. Prior anaphylactic reaction with excipients of the proposed product.
* Patients with participation in another clinical study with an investigational drug/product within 30 days of screening or fewer than 5 half-lives of the investigational agent whichever is longer from screening.
* Patients with history of alloimmunization to RBC antigens and for whom the investigator anticipates that there will be insufficient RBC units available for the duration of the study.
Minimum Eligible Age

18 Years

Maximum Eligible Age

24 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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St. Jude Children's Research Hospital

OTHER

Sponsor Role lead

National Heart, Lung, and Blood Institute (NHLBI)

NIH

Sponsor Role collaborator

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Akshay Sharma, MBBS, MSc

Role: PRINCIPAL_INVESTIGATOR

St. Jude Children's Research Hospital

Locations

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St. Jude Children's Research Hospital

Memphis, Tennessee, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Akshay Sharma, MBBS, MSc

Role: CONTACT

Phone: 866-278-5833

Email: [email protected]

Facility Contacts

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Akshay Sharma, MBBS, MSc

Role: primary

Related Links

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https://www.stjude.org

St. Jude Children's Research Hospital

http://www.stjude.org/protocols

Clinical Trials Open at St. Jude

Other Identifiers

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SAGES1

Identifier Type: -

Identifier Source: org_study_id

U01HL163983

Identifier Type: NIH

Identifier Source: secondary_id

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