RecruitingPhase 1

Gene Editing For Sickle Cell Disease

St. Jude Autologous Genome Edited Stem Cells For Sickle Cell Disease-1

Who can join

As published by the study on ClinicalTrials.gov. "Not stated" means the study hasn't said — ask the study team.

Age
18 Years to 24 Years
Sex
All sexes
Healthy volunteers
Not accepted
Compensation
Not stated

Other requirements are listed under Eligibility below. Only the study team can confirm whether you can join.

What to expect

No one can promise a trial will help you personally — that is what the research is trying to find out.

What participation involves

  • Time periods mentioned: 4 days, 3 years
  • Procedures mentioned: Infusions

Only what the study's summary and detailed description on ClinicalTrials.gov say. Time periods may describe the whole study or a part of it — ask the study team what applies to you.

Show the study's own words
  • "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."
  • "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."
  • "Participants will be followed for 3 years on this study."
Compensation
Not stated
  • Study-related exams and procedures are typically provided at no cost. This is how many trials work in general — confirm the details for this study with the study team.
  • Participants are monitored closely by the research team throughout the study.
  • Some participants may receive access to an investigational treatment, which is still being studied.
  • Your participation helps researchers learn whether this approach could help future patients.

About this study

In plain language

This study tests the safety of one dose of a person's own blood-forming stem cells changed by gene editing. It will also test whether these cells raise fetal hemoglobin, a protein in blood, and reduce sickle cell symptoms. It is for young adults with severe sickle cell disease.

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.

Compensation is read from the study's own description and may be missing — always confirm with the study team.

Eligibility

Who can join

  • Be 18 to 24.9 years old.
  • Have sickle cell disease of type Hb SS, Hb SB0, or Hb SB+.
  • Have at least 2 sickle cell blood-flow blockage events each year for the past 2 years, or at least 8 red blood cell transfusions in the past 12 months. Events may include pain attacks, chest problems, prolonged erections, or blood trapped in the spleen.
  • If you receive transfusions to prevent a stroke, your blood doctor must believe they can safely stop after treatment.
  • Hydroxyurea treatment did not work, caused side effects you could not tolerate, or was refused.
  • The study doctor must judge that you can receive a transplant using your own stem cells.
  • Men and women who can become pregnant must agree to use birth control from the start of stem cell collection preparation through at least 6 months after treatment.
  • Be willing to join a long-term follow-up study after this trial.

Who can't join

  • Have a tissue-matched sibling who can and will donate stem cells; have had a stem cell transplant or gene therapy; or have a daily activity score below 80 on the study's scale.
  • Be pregnant or breastfeeding.
  • Have a serious or uncontrolled infection within the past month, or confirmed hepatitis B, hepatitis C, HIV, or HTLV infection.
  • Have a past stroke, a major bleeding disorder, a brain blood vessel procedure within 6 months, or moyamoya disease—a narrowing of brain arteries—that is untreated or judged to raise bleeding risk.
  • Have heart, kidney, lung, or liver test results outside the study's limits, serious liver scarring, or active liver inflammation. Some liver test changes from red blood cell breakdown may be allowed if they improve to acceptable levels.
  • Have active cancer, abnormal bone marrow cell growth, abnormal chromosomes, a weakened immune system, or a harmful gene change linked to blood cancers.
  • Cannot safely take plerixafor, motixafortide, or busulfan; have had a severe allergic reaction to added ingredients in the study product; or have antibodies against donor red blood cells that may leave too little matched blood available.
  • Have used an experimental drug or product in another study within 30 days before screening, or longer if that drug takes more time to leave the body.

Simplified for readability. The official criteria below are what the study team uses.

Official eligibility criteria

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.

Study sites (1)

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